76:
125:
390:, who also typically formulates the treatment plan (see below). STS enzyme deficiency is confirmed using a clinically available biochemical assay. Carrier detection can be performed in mothers of affected sons using this test (see Genetics, below). Molecular testing for DNA deletions or mutations is also offered, and can be particularly useful in the evaluation of individuals with associated medical conditions (see below).
336:, each pregnancy will be subject to the same probabilities, regardless of the number of previously affected or unaffected offspring. The above recurrence risks are based on the assumption that an affected male or carrier female will have children with an unaffected or non-carrier individual. The risks of having affected offspring would clearly increase in the case of a union between a male with XLI and a carrier female.
48:
227:
345:
132:
The major symptoms of XLI include scaling of the skin, particularly on the neck, trunk, and lower extremities. The extensor surfaces are typically the most severely affected areas. The >4 mm diameter scales adhere to the underlying skin and can be dark brown or gray in color. Symptoms may
213:
Female carriers generally do not experience any of these problems but can have difficulty during childbirth, as the STS expressed in the placenta plays a role in normal labor. Female carriers may also be at slightly increased risk of developing mental health problems following childbirth For these
323:
deletion or mutation have a 50% chance with each pregnancy of transmitting it to an offspring. Thus, each male offspring has a 50% chance of being affected by XLI, while each female offspring has a 50% chance of being a carrier for this condition. Any individual that inherits the mother's normal
303:
deletion from a carrier mother, enzyme testing or DNA testing should be performed in the mother of any newly diagnosed simplex case (i.e. the first case in a family). In the case of an extended family with many affected individuals, carrier status can often be assigned based on pedigree analysis.
206:. Knockdown of STS gene expression in human skin cell cultures affects pathways associated with skin function, brain and heart development, and blood-clotting that may be relevant for explaining the skin condition and increased likelihood of ADHD/autism, cardiac arrhythmias and disorders of
944:
McGeoghan F, Camera E, Maiellaro M, Menon M, Huang M, Dewan P, Ziaj S, Caley MP, Donaldson M, Enright AJ, O'Toole EA (2023) RNA sequencing and lipidomics uncovers novel pathomechanisms in recessive X-linked ichthyosis
Frontiers in Molecular Biosciences 10:1176802 PMID 37363400
403:
Because XLI is caused by a gene mutation or deletion, there is no "cure." One of the aims of treatment is to reduce scaling by removing the excess, flaky scales, and keep the skin hydrated. This can be achieved using a variety of topical creams. Other treatments involve
356:
enzyme (EC 3.1.6.2), also referred to as
Arylsulfatase C, is expressed throughout the body, with highest expression in the skin, liver, lymph nodes, and placenta, and lower expression in breast tissue and brain STS catalyzes the hydrolysis of sulfated steroids, such as
181:
and some affected individuals exhibit mood problems Mood problems in XLI appear to be most influenced by stigma or bullying associated with the skin condition, and by difficulties with treating the skin condition. XLI is associated with mild-moderate impairments in
421:
Research is ongoing with regard to the use of gene therapy to treat XLI. Timber
Pharmaceuticals is planning on conducting a phase 3 trial of its investigational topical isotretinoin product in the second quarter of 2022 for the treatment of congential ichthyosis.
242:, and it affects males and females differently. The 23rd pair of chromosomes is typically termed the "sex chromosomes". Females have two X chromosomes and males have one X and one Y chromosome. Therefore, in normal individuals, males carry a single copy of the
372:
There seems to be a particularly important role for the enzyme in skin. Deficiency of the enzyme leads to the characteristic dry and scaly skin seen in ichthyosis. Recent research indicates that the skin abnormalities seen in XLI may be due to accumulation of
849:
Wren G, Humby T, Thompson AR, Davies W (2022) Mood symptoms, neurodevelopmental traits, and their contributory factors in X-linked ichthyosis, ichthyosis vulgaris and psoriasis. Clinical and
Experimental Dermatology PMID 35104372 doi:10.111/ced.15116
3540:
3481:
1615:
394:
is possible using either biochemical or molecular tests. However, the use of prenatal diagnosis for genetic conditions that are considered to be generally benign raises serious ethical considerations and requires detailed genetic counseling.
2345:
1504:
1489:
810:
Wren G, Baker E, Underwood JFG, Humby T, Thompson AR, Kirov G, Escott-Price V, Davies W (2022) Characterising heart rhythm abnormalities associated with Xp22.31 deletion
Journal of Medical Genetics PMID 36379544 doi:10.1136/jmg-2022-108862
836:
Chatterjee S, Humby T, Davies W (2016) Behavioural and psychiatric phenotypes in men and boys with X-linked ichthyosis: evidence from a worldwide online survey. PLoS One 11(10):e0164417 PMID 27711218 doi:10.1371/journal.pone.0164417 URL:
862:
Wren G, Flanagan J, Underwood J, Thompson A, Humby T, Davies W (2024) Memory, mood and associated neuroanatomy in individuals with steroid sulphatase deficiency (X-linked ichthyosis). Genes Brain and
Behavior doi:10.1111/gbb.12893
984:
Cavenagh A, Chatterjee S, Davies W (2019) Behavioural and psychiatric phenotypes in female carriers of genetic mutations associated with X-linked ichthyosis. PLoS One 14(2):e0212330 PMID 30768640 doi:10.1371/journal.pone.0212330
823:
Wren G, Davies W (2024) Cardiac arrhythmia in individuals with steroid sulfatase deficiency (X-linked ichthyosis): candidate anatomical and biochemical pathways Essays in
Biochemistry PMID 38571328 doi:10.1042/EBC20230098
3313:
2420:
1608:
385:
XLI can be suspected based on clinical findings, although symptoms can take varying amounts of time to become evident, from a few hours after birth, up to a year in milder cases. The diagnosis is usually made by a
3519:
3471:
3466:
1601:
3486:
1082:
Cuevas-Covarrubias SA, Kofman-Alfaro S, Orozco Orozco E, Diaz-Zagoya JC (1995). "The biochemical identification of carrier state in mothers of sporadic cases of X-linked recessive ichthyosis".
3377:
3306:
2568:
875:
Brcic L, Wren GH, Underwood JFG, Kirov G, Davies W (2022) Comorbid medical issues in X-linked ichthyosis. JID Innovations 2(3):100109 PMID 35330591 doi:10.1016/j.xjidi.2022.100109 URL:
2436:
1840:
3299:
3634:
1869:
1835:
186:
which appear to be independent of effects on mood. Blood-clotting abnormalities may occur more frequently in males with XLI and female carriers. Individuals with XLI can exhibit
1044:
Valdes-Flores M, Kofman-Alfaro SH, Jimenez-Vaca AL, Cuevas-Covarrubias SA (August 2001). "Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis".
2928:
1776:
2276:
3340:
1771:
3545:
2272:
2984:
2848:
2578:
825:
2884:
2695:
2223:
2084:
1864:
1859:
1849:
280:
For this reason, XLI most commonly affects males, although individuals with numeric abnormalities of the sex chromosomes (45,X and 47,XXY) who also carry
3491:
2603:
2340:
1888:
287:
In addition, a female could be affected if she were the offspring of an affected male and a carrier female and inherited a deletion or mutation of the
2744:
2563:
2158:
1883:
1815:
958:
Bradshaw KD, Carr BR (1986). "Placental sulfatase deficiency: maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis".
2628:
2218:
2213:
178:
998:
Lykkesfeldt G, Lykkesfeldt AE, Skakkebaek NE (1984). "Steroid sulphatase in man: a non inactivated X-locus with partial gene dosage compensation".
3449:
3191:
3039:
1854:
1820:
3073:
3110:
3186:
2853:
2829:
1830:
1689:
505:
473:
3029:
2764:
2350:
1935:
600:"Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis"
3397:
3322:
1825:
1519:
520:
104:(STS) enzyme that affects 1 in 2000 to 1 in 6000 males. XLI manifests with dry, scaly skin and is due to deletions or mutations in the
2819:
2643:
2588:
3387:
3105:
541:"Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis"
3063:
2889:
2115:
1945:
1878:
1457:
1436:
369:
production. The enzyme is also involved in adrenal steroid production as well as conversion of sulfated steroids in other tissues.
3034:
149:
may affect up to 1 in 10 males with XLI. Heart rhythm abnormalities in individuals with XLI tend to co-occur with disorders of the
2132:
2969:
2688:
2228:
3196:
2633:
1722:
3524:
2815:
2653:
2583:
2553:
2430:
2203:
1908:
1781:
1766:
890:"Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis"
365:(DHEAS), to non-sulfated steroids estradiol and androstenediol, respectively. Prenatally, the enzyme is involved in placental
1955:
1324:"Topical tazarotene 0.05% versus glycolic acid 70% treatment in X-linked ichthyosis due to extensive deletion of the STS gene"
3434:
3138:
2718:
2267:
2178:
826:
https://portlandpress.com/essaysbiochem/article/doi/10.1042/EBC20230098/234273/Cardiac-arrhythmia-in-individuals-with-steroid
362:
1109:
Selcer KW, Difrancesca HM, Chandra AB, Li PK (2007). "Immunohistochemical analysis of steroid sulfatase in human tissues".
764:"Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank"
3220:
2734:
2593:
2546:
2173:
2096:
1810:
1756:
2739:
1593:
3550:
3352:
2001:
1693:
173:
is reported in some individuals. Individuals with XLI appear at increased risk of neurodevelopmental disorders such as
3276:
3201:
3095:
2749:
2681:
2618:
2335:
1995:
3604:
2079:
1986:
408:
Keratolytic agents such as
Ammonium lactate (Lac-Hydrin) are used to facilitate the release of retained corneocytes.
3271:
2858:
2208:
265:
gene in a male results in complete absence of enzyme activity, while a female carrier of a mutation or deletion is
2974:
2412:
1960:
762:
Brcic, Lucija; Underwood, Jack FG; Kendall, Kimberley M.; Caseras, Xavier; Kirov, George; Davies, William (2020).
3579:
3231:
3091:
2754:
1978:
1703:
109:
3266:
2933:
2163:
3529:
2253:
2241:
2199:
2185:
2153:
2149:
2057:
2052:
2047:
2043:
2035:
2006:
1530:
1195:"X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations"
328:
gene will be unaffected and will have an extremely low chance of having a child affected with this condition.
3629:
3236:
3160:
2950:
2879:
2531:
1950:
1913:
1761:
986:
838:
659:"Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis"
187:
162:
2137:
1964:
1940:
3639:
3251:
3100:
3058:
3008:
2960:
2902:
2648:
2613:
2536:
2330:
2318:
2168:
2011:
1364:
150:
124:
3083:
2915:
2513:
2424:
1800:
1649:
1581:
876:
946:
3574:
3372:
2871:
2797:
2769:
2503:
2405:
1923:
611:
552:
203:
812:
75:
2779:
2311:
2190:
1698:
1681:
1671:
1654:
1624:
1508:
374:
142:
316:. However, all male offspring will be unaffected, since they receive their father's Y chromosome.
3347:
3330:
3241:
2941:
2839:
2573:
2089:
1786:
1732:
1712:
1663:
1134:
1023:
744:
391:
313:
166:
430:
In the 1960s, recessive x-linked ichthyosis was distinguished clinically from other ichthyoses.
141:
Aside from the skin scaling, XLI is not typically associated with other major medical problems.
230:
X linked ichthyosis - this boy has an infant brother and maternal uncle with the same condition
3133:
2824:
2807:
2598:
2558:
2480:
2355:
2299:
2233:
1898:
1541:
1453:
1432:
1386:
1345:
1304:
1296:
1275:
Bruckner-Tuderman, Leena; Sigg, Christian; Geiger, Jean-Marie; Gilardi, Stefano (1988-04-01).
1257:
1216:
1175:
1126:
1091:
1061:
1015:
967:
911:
793:
736:
680:
639:
580:
501:
469:
444:
353:
199:
154:
101:
64:
3246:
3120:
2485:
2120:
1931:
1903:
1376:
1335:
1288:
1247:
1206:
1165:
1118:
1053:
1007:
901:
783:
775:
728:
719:
DiGiovanna JJ, Robinson-Bostom L (2003). "Ichthyosis: etiology, diagnosis, and management".
670:
629:
619:
570:
560:
277:
deletion or mutation still express the STS enzyme, although with decreased enzyme activity.
239:
97:
69:
17:
3410:
3392:
3181:
3128:
3004:
2999:
2920:
2726:
2508:
2026:
358:
1292:
928:
Wren GH, Davies W (2022) X-linked ichthyosis: New insights into a multi-system disorder
864:
615:
556:
198:. The skin and medical conditions associated with XLI are likely to be due to perturbed
55:
X-linked recessive inheritance: Affected boys may inherit a deletion or mutation of the
3429:
3382:
3261:
3176:
3049:
3014:
2946:
2623:
2608:
2541:
2323:
2294:
2144:
2108:
2062:
2021:
1717:
1640:
1276:
1211:
1194:
933:
788:
763:
675:
658:
377:
in the outer epidermis, leading to abnormal barrier function and corneocyte retention.
247:
190:, although this is thought to be due to deletions encompassing neighboring genes (e.g.
170:
146:
3291:
1513:
634:
599:
575:
540:
3623:
3256:
3019:
2979:
2907:
2894:
2792:
2787:
2759:
2470:
2390:
1974:
1252:
1235:
748:
732:
387:
333:
113:
1138:
112:. Treatment is largely aimed at alleviating the skin symptoms. The term is from the
2866:
2475:
2465:
2401:
2382:
1632:
1570:
1027:
266:
215:
779:
226:
47:
1535:
3501:
3444:
3405:
3363:
2704:
2638:
2346:
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome
2247:
2126:
2102:
1122:
1546:
1277:"Acitretin in the Symptomatic Therapy for Severe Recessive X-linked Ichthyosis"
312:
deletion or mutation to each of his female offspring, who will therefore be an
2396:
1991:
1628:
1498:
1340:
1323:
1236:"Basis for abnormal desquamation and permeability barrier dysfunction in RXLI"
701:
439:
258:
238:
gene is located on the X chromosome at band Xp22.3. Thus, the syndrome is an
207:
158:
1404:
1300:
3461:
2658:
1565:
1322:
Cotellessa C, Cuevas-Covarrubias SA, Valeri P, Fargnoli MC, Peris K (2005).
706:
624:
565:
1363:
Freiberg RA, Choate KA, Deng H, Alperin ES, Shapiro LJ, Khavari PA (1997).
1349:
1261:
1179:
1130:
1065:
915:
797:
740:
1390:
1381:
1308:
1220:
1095:
1019:
971:
684:
643:
584:
344:
250:
and females normally express higher amounts of the STS enzyme than males.
3566:
3511:
3457:
2376:
2261:
2073:
1576:
1170:
1153:
987:
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0212330
906:
889:
839:
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0164417
366:
1481:
3420:
1011:
299:
Since the majority of cases appear to occur through transmission of an
1057:
2673:
2421:
Template:Congenital malformations and deformations of skin appendages
2305:
1493:
877:
https://www.jidinnovations.org/article/S2667-0267(22)00016-9/fulltext
598:
Bonifas JM, Morley BJ, Oakey RE, Kan YW, Epstein EH (December 1987).
183:
174:
108:
gene. XLI can also occur in the context of larger deletions causing
947:
https://www.frontiersin.org/articles/10.3389/fmolb.2023.1176802/full
851:
3152:
2495:
1154:"Steroid sulfatase: molecular biology, regulation, and inhibition"
343:
225:
123:
813:
https://jmg.bmj.com/content/early/2022/11/15/jmg-2022-108862.long
657:
Basler E, Grompe M, Parenti G, Yates J, Ballabio A (March 1992).
464:
Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
3148:
2989:
1524:
524:
246:
gene and females carry two copies. This gene partially escapes
93:
3295:
3218:
2716:
2677:
2154:
Focal palmoplantar keratoderma with oral mucosal hyperkeratosis
1597:
1152:
Reed MJ, Purohit A, Woo LW, Newman SP, Potter BV (April 2005).
257:
gene but is more commonly inherited from a carrier mother. A
191:
169:. Corneal opacities may be present but do not affect vision.
3492:
Apparent mineralocorticoid excess syndrome/11β-dehydrogenase
1365:"A model of corrective gene transfer in X-linked ichthyosis"
308:
Males with XLI will transmit the X chromosome harboring the
3378:
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
498:
Pediatric
Dermatology and Dermatopathology: A Concise Atlas
41:
Steroid sulfatase deficiency, X-linked recessive ichthyosis
888:
Van Esch H, Hollanders K, Badisco L, et al. (2005).
284:
deletions or mutations would be exceptions to this rule.
2569:
Congenital hypertrophy of the lateral fold of the hallux
253:
XLI can occur through new deletions or mutations of the
2437:
Template:DNA replication and repair-deficiency disorder
1193:
Jöbsis AC, De Groot WP, Tigges AJ, et al. (1980).
539:
Ballabio A, Parenti G, Carrozzo R, et al. (1987).
1448:
James, William; Berger, Timothy; Elston, Dirk (2005).
1234:
Elias PM, Crumrine D, Rassner U, et al. (2004).
865:
https://onlinelibrary.wiley.com/doi/10.1111/gbb.12893
161:
in XLI may be related to abnormal development of the
1471:
934:
https://onlinelibrary.wiley.com/doi/10.1002/ski2.179
332:
Due to random segregation of the chromosomes during
3592:
3564:
3509:
3500:
3428:
3419:
3361:
3329:
3169:
3147:
3119:
3082:
3048:
2959:
2838:
2806:
2778:
2725:
2524:
2494:
2458:
2449:
2368:
2287:
2034:
2020:
1973:
1922:
1799:
1749:
1731:
1680:
1662:
1648:
1639:
1556:
1475:
1450:
417:The topical receptor-selective retinoid tazarotene
63:
37:
32:
2053:Diffuse nonepidermolytic palmoplantar keratoderma
1777:Nonbullous congenital ichthyosiform erythroderma
2895:Danon disease/glycogen storage disease Type IIb
2242:Palmoplantar keratoderma and spastic paraplegia
2048:Diffuse epidermolytic palmoplantar keratoderma
3307:
3000:Color blindness (red and green, but not blue)
2985:Alpha-thalassemia mental retardation syndrome
2689:
2579:Congenital malformations of the dermatoglyphs
1609:
1429:Fitzpatrick's Dermatology in General Medicine
8:
3635:Cholesterol and steroid metabolism disorders
2885:Glucose-6-phosphate dehydrogenase deficiency
202:function and abnormal interactions with the
3546:17β-Hydroxysteroid dehydrogenase deficiency
3541:3β-Hydroxysteroid dehydrogenase deficiency
3506:
3425:
3314:
3300:
3292:
3215:
2713:
2696:
2682:
2674:
2604:Melanotic neuroectodermal tumor of infancy
2455:
2341:Keratosis follicularis spinulosa decalvans
2031:
1772:Ichthyosis–sclerosing cholangitis syndrome
1659:
1645:
1616:
1602:
1594:
1472:
534:
532:
74:
46:
29:
2745:X-linked severe combined immunodeficiency
2564:Congenital cartilaginous rest of the neck
2159:Focal palmoplantar and gingival keratosis
1380:
1339:
1251:
1210:
1169:
1077:
1075:
1039:
1037:
905:
787:
674:
633:
623:
574:
564:
491:
489:
487:
485:
3555:Pseudovaginal perineoscrotal hypospadias
2629:Rapidly involuting congenital hemangioma
2219:Keratosis punctata of the palmar creases
2214:Keratosis punctata palmaris et plantaris
2085:Clouston's hidrotic ectodermal dysplasia
496:Carlo Gelmetti; Caputo, Ruggero (2002).
179:Attention Deficit Hyperactivity Disorder
3450:Glucocorticoid remediable aldosteronism
3139:X-linked nephrogenic diabetes insipidus
3064:Hypohidrotic ectodermal dysplasia (EDA)
932:PMID 36479267 doi:10.1002/ski2.179 URL:
456:
3074:X-linked endothelial corneal dystrophy
696:
694:
3030:Charcot–Marie–Tooth disease (CMTX2-3)
2854:Ornithine transcarbamylase deficiency
2830:X-linked adrenal hypoplasia congenita
1690:Congenital ichthyosiform erythroderma
214:reasons carriers should ensure their
7:
2765:X-linked lymphoproliferative disease
2735:Chronic granulomatous disease (CYBB)
2351:Keratosis pilaris atrophicans faciei
1936:Dermatopathia pigmentosa reticularis
1293:10.1001/archderm.1988.01670040031017
3323:Inborn errors of steroid metabolism
3111:Emery–Dreifuss muscular dystrophy 1
945:doi:10.3389/fmolb.2023.1176802 URL:
521:Online Mendelian Inheritance in Man
269:and still has a normal copy of the
2820:Spinal and bulbar muscular atrophy
2644:Superficial lymphatic malformation
2589:Congenital smooth muscle hamartoma
2058:Palmoplantar keratoderma of Sybert
1627:malformations and deformations of
25:
2890:Pyruvate dehydrogenase deficiency
2116:Scleroatrophic syndrome of Huriez
1946:Hypohidrotic ectodermal dysplasia
852:https://doi.org/10.1111/ced.15116
2970:X-linked intellectual disability
2229:Porokeratosis plantaris discreta
2186:Striate palmoplantar keratoderma
1253:10.1046/j.1523-1747.2003.22258.x
733:10.2165/00128071-200304020-00002
153:, and are likely to result from
2816:Androgen insensitivity syndrome
2654:Verrucous vascular malformation
2584:Congenital preauricular fistula
2554:Accessory nail of the fifth toe
2431:Template:Pigmentation disorders
2224:Schöpf–Schulz–Passarge syndrome
2204:Acrokeratoelastoidosis of Costa
1909:Laryngoonychocutaneous syndrome
1782:Ichthyosis linearis circumflexa
1767:Ichthyosis prematurity syndrome
3192:Simpson–Golabi–Behmel syndrome
2268:Erythrokeratodermia variabilis
2179:Pachyonychia congenita type II
363:dehydroepiandrosterone sulfate
1:
3161:AMELX Amelogenesis imperfecta
3101:Centronuclear myopathy (MTM1)
2798:X-linked sideroblastic anemia
2594:Cystic lymphatic malformation
2547:Cavernous venous malformation
2174:Pachyonychia congenita type I
2097:Corneodermatoosseous syndrome
1757:Ichthyosis bullosa of Siemens
1111:J. Steroid Biochem. Mol. Biol
780:10.1136/jmedgenet-2019-106676
525:ICHTHYOSIS, X-LINKED - 308100
273:gene. Female carriers of an
137:Associated medical conditions
3353:Mevalonate kinase deficiency
3187:Smith–Fineman–Myers syndrome
3035:Pelizaeus–Merzbacher disease
2929:Purine–pyrimidine metabolism
2002:Popliteal pterygium syndrome
1694:Epidermolytic hyperkeratosis
604:Proc. Natl. Acad. Sci. U.S.A
545:Proc. Natl. Acad. Sci. U.S.A
500:. T&F STM. p. 160.
291:gene on both X chromosomes.
261:deletion or mutation of the
18:Steroid sulfatase deficiency
3277:Craniofrontonasal dysplasia
3202:Nasodigitoacoustic syndrome
2750:X-linked agammaglobulinemia
2634:Rosenthal–Kloepfer syndrome
2619:Omphalomesenteric duct cyst
2336:Keratolytic winter erythema
1996:Gerodermia osteodysplastica
1123:10.1016/j.jsbmb.2006.12.105
768:Journal of Medical Genetics
218:is aware of the condition.
133:subside during the summer.
3656:
3520:17α-Hydroxylase deficiency
3398:Smith–Lemli–Opitz syndrome
3388:Conradi–Hünermann syndrome
3272:Orofaciodigital syndrome 1
3106:Conradi–Hünermann syndrome
2859:Oculocerebrorenal syndrome
2209:Focal acral hyperkeratosis
1956:Ellis–van Creveld syndrome
1431:. (6th ed.). McGraw-Hill.
1427:Freedberg, et al. (2003).
116:'ichthys' meaning 'fish'.
3580:Aromatase excess syndrome
3551:5α-reductase 2 deficiency
3232:X-linked hypophosphatemia
3227:
3214:
3092:Becker muscular dystrophy
2755:Hyper-IgM syndrome type 1
2712:
2133:Papillon–Lefèvre syndrome
1704:Harlequin-type ichthyosis
1341:10.1080/00015550510026613
466:Dermatology: 2-Volume Set
295:Genetic counseling issues
110:contiguous gene syndromes
54:
45:
3341:HMG-CoA lyase deficiency
3197:Mohr–Tranebjærg syndrome
2740:Wiskott–Aldrich syndrome
2007:Pseudoxanthoma elasticum
1723:Sjögren–Larsson syndrome
1452:. (10th ed.). Saunders.
96:condition caused by the
3237:Focal dermal hypoplasia
2951:Occipital horn syndrome
2880:Carbohydrate metabolism
2532:Aplasia cutis congenita
1951:Focal dermal hypoplasia
1914:Skin fragility syndrome
1762:Ichthyosis follicularis
1281:Archives of Dermatology
930:Skin Health and Disease
625:10.1073/pnas.84.24.9248
566:10.1073/pnas.84.13.4519
340:Physiology/biochemistry
188:intellectual disability
163:interventricular septum
59:gene from their mothers
3605:Antley–Bixler syndrome
3525:17,20-Lyase deficiency
3252:Incontinentia pigmenti
3059:Dyskeratosis congenita
2903:Lipid storage disorder
2825:KAL1 Kallmann syndrome
2649:Thyroglossal duct cyst
2614:Nasolacrimal duct cyst
2537:Amniotic band syndrome
2331:Dyskeratosis congenita
2319:Dyskeratosis congenita
2169:Pachyonychia congenita
2080:Bart–Pumphrey syndrome
2012:Van der Woude syndrome
1987:Ehlers–Danlos syndrome
349:
319:Female carriers of an
231:
151:gastrointestinal tract
129:
2975:Coffin–Lowry syndrome
2916:Mucopolysaccharidosis
2514:Nevus flammeus nuchae
2425:Template:Phakomatoses
2397:Hereditary lymphedema
1961:Rapp–Hodgkin syndrome
1650:Congenital ichthyosis
347:
229:
127:
98:hereditary deficiency
3575:Aromatase deficiency
3482:CAH 3β-dehydrogenase
3373:7-Dehydrocholesterol
3267:Lujan–Fryns syndrome
2934:Lesch–Nyhan syndrome
2872:Adrenoleukodystrophy
2770:Properdin deficiency
2504:Capillary hemangioma
2406:Urticaria pigmentosa
2164:Howel–Evans syndrome
1924:Ectodermal dysplasia
1865:Generalized atrophic
1171:10.1210/er.2004-0003
702:Ichthyosis, X-Linked
468:. St. Louis: Mosby.
204:extracellular matrix
157:deficiency. Cardiac
3600:X-linked ichthyosis
3472:CAH 11β-hydroxylase
3467:CAH 17α-hydroxylase
3069:X-linked ichthyosis
2191:Tyrosinemia type II
1741:X-linked ichthyosis
1699:Lamellar ichthyosis
1672:Ichthyosis vulgaris
1655:erythrokeratodermia
1382:10.1093/hmg/6.6.927
1328:Acta Derm. Venereol
1240:J. Invest. Dermatol
960:Obstet Gynecol Surv
709:: Treatment Section
616:1987PNAS...84.9248B
557:1987PNAS...84.4519B
375:cholesterol sulfate
143:Atrial fibrillation
128:X linked ichthyosis
86:X-linked ichthyosis
33:X-linked ichthyosis
3487:CAH 21-hydroxylase
3348:Hyper-IgD syndrome
3242:Fragile X syndrome
3052:and related tissue
2719:X-linked recessive
2574:Congenital lip pit
2138:Haim–Munk syndrome
2090:Vohwinkel syndrome
1965:Hay–Wells syndrome
1941:Hay–Wells syndrome
1787:Ichthyosis hystrix
1713:Netherton syndrome
1557:External resources
1012:10.1007/BF00291559
907:10.1093/hmg/ddi186
721:Am J Clin Dermatol
392:Prenatal diagnosis
350:
240:X-linked condition
232:
167:interatrial septum
130:
120:Signs and symptoms
3617:
3616:
3613:
3612:
3588:
3587:
3289:
3288:
3285:
3284:
3221:X-linked dominant
3210:
3209:
3170:No primary system
2671:
2670:
2667:
2666:
2599:Median raphe cyst
2559:Bronchogenic cyst
2481:PHACE association
2445:
2444:
2364:
2363:
2356:Keratosis pilaris
2300:Keratosis pilaris
2254:Carvajal syndrome
2234:Spiny keratoderma
1899:Costello syndrome
1795:
1794:
1591:
1590:
1058:10.1002/ajmg.1450
1046:Am. J. Med. Genet
663:Am. J. Hum. Genet
507:978-1-84184-120-5
475:978-1-4160-2999-1
445:Carvajal syndrome
411:oral isotretinoin
200:basement membrane
194:) in addition to
155:steroid sulfatase
102:steroid sulfatase
83:
82:
27:Medical condition
16:(Redirected from
3647:
3507:
3426:
3316:
3309:
3302:
3293:
3247:Aicardi syndrome
3216:
2714:
2698:
2691:
2684:
2675:
2486:Sinus pericranii
2456:
2312:Darier's disease
2121:Olmsted syndrome
2032:
1932:Naegeli syndrome
1904:Kindler syndrome
1660:
1646:
1618:
1611:
1604:
1595:
1473:
1461:
1446:
1440:
1425:
1419:
1418:
1416:
1415:
1405:"Press Releases"
1401:
1395:
1394:
1384:
1360:
1354:
1353:
1343:
1319:
1313:
1312:
1272:
1266:
1265:
1255:
1231:
1225:
1224:
1214:
1190:
1184:
1183:
1173:
1149:
1143:
1142:
1106:
1100:
1099:
1079:
1070:
1069:
1041:
1032:
1031:
995:
989:
982:
976:
975:
955:
949:
942:
936:
926:
920:
919:
909:
900:(13): 1795–803.
885:
879:
873:
867:
860:
854:
847:
841:
834:
828:
821:
815:
808:
802:
801:
791:
759:
753:
752:
716:
710:
698:
689:
688:
678:
654:
648:
647:
637:
627:
595:
589:
588:
578:
568:
536:
527:
518:
512:
511:
493:
480:
479:
461:
314:obligate carrier
79:
78:
70:Medical genetics
50:
30:
21:
3655:
3654:
3650:
3649:
3648:
3646:
3645:
3644:
3620:
3619:
3618:
3609:
3584:
3560:
3533:
3496:
3432:
3415:
3411:Desmosterolosis
3393:Lathosterolosis
3357:
3332:
3325:
3320:
3290:
3281:
3223:
3206:
3182:McLeod syndrome
3165:
3143:
3129:Alport syndrome
3115:
3078:
3044:
3005:Ocular albinism
2955:
2921:Hunter syndrome
2834:
2802:
2774:
2721:
2708:
2702:
2672:
2663:
2525:Other/ungrouped
2520:
2509:Port-wine stain
2490:
2451:
2441:
2360:
2283:
2025:
2016:
1969:
1918:
1803:
1791:
1745:
1727:
1676:
1653:
1635:
1622:
1592:
1587:
1586:
1552:
1551:
1484:
1470:
1465:
1464:
1447:
1443:
1426:
1422:
1413:
1411:
1403:
1402:
1398:
1369:Hum. Mol. Genet
1362:
1361:
1357:
1321:
1320:
1316:
1274:
1273:
1269:
1233:
1232:
1228:
1192:
1191:
1187:
1151:
1150:
1146:
1117:(1–5): 115–23.
1108:
1107:
1103:
1081:
1080:
1073:
1043:
1042:
1035:
997:
996:
992:
983:
979:
957:
956:
952:
943:
939:
927:
923:
894:Hum. Mol. Genet
887:
886:
882:
874:
870:
861:
857:
848:
844:
835:
831:
822:
818:
809:
805:
774:(10): 692–698.
761:
760:
756:
718:
717:
713:
699:
692:
656:
655:
651:
610:(24): 9248–51.
597:
596:
592:
551:(13): 4519–23.
538:
537:
530:
519:
515:
508:
495:
494:
483:
476:
463:
462:
458:
453:
436:
428:
401:
383:
359:estrone sulfate
342:
297:
224:
139:
122:
73:
28:
23:
22:
15:
12:
11:
5:
3653:
3651:
3643:
3642:
3637:
3632:
3630:Genodermatoses
3622:
3621:
3615:
3614:
3611:
3610:
3608:
3607:
3602:
3596:
3594:
3590:
3589:
3586:
3585:
3583:
3582:
3577:
3571:
3569:
3562:
3561:
3559:
3558:
3557:
3556:
3548:
3543:
3538:
3537:
3536:
3531:
3522:
3516:
3514:
3504:
3498:
3497:
3495:
3494:
3489:
3484:
3475:
3474:
3469:
3453:
3452:
3440:
3438:
3430:Corticosteroid
3423:
3417:
3416:
3414:
3413:
3401:
3400:
3395:
3390:
3385:
3383:CHILD syndrome
3380:
3368:
3366:
3359:
3358:
3356:
3355:
3350:
3344:
3343:
3337:
3335:
3327:
3326:
3321:
3319:
3318:
3311:
3304:
3296:
3287:
3286:
3283:
3282:
3280:
3279:
3274:
3269:
3264:
3262:CHILD syndrome
3259:
3254:
3249:
3244:
3239:
3234:
3228:
3225:
3224:
3219:
3212:
3211:
3208:
3207:
3205:
3204:
3199:
3194:
3189:
3184:
3179:
3177:Barth syndrome
3173:
3171:
3167:
3166:
3164:
3163:
3157:
3155:
3145:
3144:
3142:
3141:
3136:
3134:Dent's disease
3131:
3125:
3123:
3117:
3116:
3114:
3113:
3108:
3103:
3098:
3088:
3086:
3080:
3079:
3077:
3076:
3071:
3066:
3061:
3055:
3053:
3046:
3045:
3043:
3042:
3037:
3032:
3023:
3022:
3017:
3015:Norrie disease
3012:
3002:
2997:Eye disorders:
2993:
2992:
2987:
2982:
2977:
2965:
2963:
2961:Nervous system
2957:
2956:
2954:
2953:
2947:Menkes disease
2937:
2936:
2924:
2923:
2911:
2910:
2898:
2897:
2892:
2887:
2875:
2874:
2862:
2861:
2856:
2844:
2842:
2836:
2835:
2833:
2832:
2827:
2822:
2812:
2810:
2804:
2803:
2801:
2800:
2795:
2790:
2784:
2782:
2776:
2775:
2773:
2772:
2767:
2762:
2757:
2752:
2747:
2742:
2737:
2731:
2729:
2723:
2722:
2717:
2710:
2709:
2703:
2701:
2700:
2693:
2686:
2678:
2669:
2668:
2665:
2664:
2662:
2661:
2656:
2651:
2646:
2641:
2636:
2631:
2626:
2624:Poland anomaly
2621:
2616:
2611:
2609:Mongolian spot
2606:
2601:
2596:
2591:
2586:
2581:
2576:
2571:
2566:
2561:
2556:
2550:
2549:
2544:
2542:Branchial cyst
2539:
2534:
2528:
2526:
2522:
2521:
2519:
2518:
2517:
2516:
2506:
2500:
2498:
2492:
2491:
2489:
2488:
2483:
2478:
2473:
2468:
2462:
2460:
2453:
2447:
2446:
2443:
2442:
2416:
2415:
2410:
2409:
2408:
2399:
2387:
2386:
2385:
2372:
2370:
2366:
2365:
2362:
2361:
2359:
2358:
2353:
2348:
2343:
2338:
2333:
2327:
2326:
2324:Lelis syndrome
2321:
2316:
2315:
2314:
2302:
2297:
2295:Meleda disease
2291:
2289:
2285:
2284:
2282:
2281:
2280:
2279:
2270:
2258:
2257:
2256:
2244:
2237:
2236:
2231:
2226:
2221:
2216:
2211:
2206:
2196:
2195:
2194:
2193:
2188:
2183:
2182:
2181:
2176:
2166:
2161:
2156:
2147:
2145:Camisa disease
2142:
2141:
2140:
2135:
2123:
2118:
2113:
2112:
2111:
2109:Naxos syndrome
2099:
2094:
2093:
2092:
2087:
2082:
2066:
2065:
2063:Meleda disease
2060:
2055:
2050:
2040:
2038:
2029:
2022:Hyperkeratosis
2018:
2017:
2015:
2014:
2009:
2004:
1999:
1989:
1983:
1981:
1971:
1970:
1968:
1967:
1958:
1953:
1948:
1943:
1938:
1928:
1926:
1920:
1919:
1917:
1916:
1911:
1906:
1901:
1894:
1893:
1892:
1891:
1886:
1875:
1874:
1873:
1872:
1867:
1862:
1857:
1846:
1845:
1844:
1843:
1838:
1833:
1828:
1823:
1818:
1807:
1805:
1797:
1796:
1793:
1792:
1790:
1789:
1784:
1779:
1774:
1769:
1764:
1759:
1753:
1751:
1747:
1746:
1744:
1743:
1737:
1735:
1729:
1728:
1726:
1725:
1720:
1718:CHIME syndrome
1715:
1709:
1708:
1707:
1706:
1696:
1686:
1684:
1678:
1677:
1675:
1674:
1668:
1666:
1657:
1643:
1641:Genodermatosis
1637:
1636:
1623:
1621:
1620:
1613:
1606:
1598:
1589:
1588:
1585:
1584:
1573:
1561:
1560:
1558:
1554:
1553:
1550:
1549:
1538:
1527:
1516:
1501:
1485:
1480:
1479:
1477:
1476:Classification
1469:
1468:External links
1466:
1463:
1462:
1441:
1420:
1396:
1355:
1314:
1287:(4): 529–532.
1267:
1226:
1185:
1164:(2): 171–202.
1144:
1101:
1071:
1033:
990:
977:
950:
937:
921:
880:
868:
855:
842:
829:
816:
803:
754:
711:
690:
649:
590:
528:
513:
506:
481:
474:
455:
454:
452:
449:
448:
447:
442:
435:
432:
427:
424:
419:
418:
415:
412:
409:
400:
397:
382:
379:
341:
338:
330:
329:
317:
296:
293:
248:X-inactivation
223:
220:
171:Cryptorchidism
147:atrial flutter
138:
135:
121:
118:
81:
80:
67:
61:
60:
52:
51:
43:
42:
39:
35:
34:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
3652:
3641:
3640:Rare diseases
3638:
3636:
3633:
3631:
3628:
3627:
3625:
3606:
3603:
3601:
3598:
3597:
3595:
3591:
3581:
3578:
3576:
3573:
3572:
3570:
3568:
3563:
3554:
3553:
3552:
3549:
3547:
3544:
3542:
3539:
3535:
3528:
3527:
3526:
3523:
3521:
3518:
3517:
3515:
3513:
3508:
3505:
3503:
3499:
3493:
3490:
3488:
3485:
3483:
3480:
3477:
3476:
3473:
3470:
3468:
3465:
3463:
3459:
3455:
3454:
3451:
3448:
3446:
3442:
3441:
3439:
3436:
3431:
3427:
3424:
3422:
3418:
3412:
3409:
3407:
3403:
3402:
3399:
3396:
3394:
3391:
3389:
3386:
3384:
3381:
3379:
3376:
3374:
3370:
3369:
3367:
3365:
3360:
3354:
3351:
3349:
3346:
3345:
3342:
3339:
3338:
3336:
3334:
3328:
3324:
3317:
3312:
3310:
3305:
3303:
3298:
3297:
3294:
3278:
3275:
3273:
3270:
3268:
3265:
3263:
3260:
3258:
3257:Rett syndrome
3255:
3253:
3250:
3248:
3245:
3243:
3240:
3238:
3235:
3233:
3230:
3229:
3226:
3222:
3217:
3213:
3203:
3200:
3198:
3195:
3193:
3190:
3188:
3185:
3183:
3180:
3178:
3175:
3174:
3172:
3168:
3162:
3159:
3158:
3156:
3154:
3150:
3146:
3140:
3137:
3135:
3132:
3130:
3127:
3126:
3124:
3122:
3118:
3112:
3109:
3107:
3104:
3102:
3099:
3097:
3093:
3090:
3089:
3087:
3085:
3084:Neuromuscular
3081:
3075:
3072:
3070:
3067:
3065:
3062:
3060:
3057:
3056:
3054:
3051:
3047:
3041:
3038:
3036:
3033:
3031:
3028:
3025:
3024:
3021:
3020:Choroideremia
3018:
3016:
3013:
3010:
3006:
3003:
3001:
2998:
2995:
2994:
2991:
2988:
2986:
2983:
2981:
2980:MASA syndrome
2978:
2976:
2973:
2971:
2967:
2966:
2964:
2962:
2958:
2952:
2948:
2945:
2943:
2939:
2938:
2935:
2932:
2930:
2926:
2925:
2922:
2919:
2917:
2913:
2912:
2909:
2908:Fabry disease
2905:
2904:
2900:
2899:
2896:
2893:
2891:
2888:
2886:
2883:
2881:
2877:
2876:
2873:
2870:
2868:
2864:
2863:
2860:
2857:
2855:
2852:
2850:
2846:
2845:
2843:
2841:
2837:
2831:
2828:
2826:
2823:
2821:
2817:
2814:
2813:
2811:
2809:
2805:
2799:
2796:
2794:
2793:Haemophilia B
2791:
2789:
2788:Haemophilia A
2786:
2785:
2783:
2781:
2777:
2771:
2768:
2766:
2763:
2761:
2758:
2756:
2753:
2751:
2748:
2746:
2743:
2741:
2738:
2736:
2733:
2732:
2730:
2728:
2724:
2720:
2715:
2711:
2706:
2699:
2694:
2692:
2687:
2685:
2680:
2679:
2676:
2660:
2657:
2655:
2652:
2650:
2647:
2645:
2642:
2640:
2637:
2635:
2632:
2630:
2627:
2625:
2622:
2620:
2617:
2615:
2612:
2610:
2607:
2605:
2602:
2600:
2597:
2595:
2592:
2590:
2587:
2585:
2582:
2580:
2577:
2575:
2572:
2570:
2567:
2565:
2562:
2560:
2557:
2555:
2552:
2551:
2548:
2545:
2543:
2540:
2538:
2535:
2533:
2530:
2529:
2527:
2523:
2515:
2512:
2511:
2510:
2507:
2505:
2502:
2501:
2499:
2497:
2493:
2487:
2484:
2482:
2479:
2477:
2474:
2472:
2471:Encephalocele
2469:
2467:
2464:
2463:
2461:
2457:
2454:
2450:Developmental
2448:
2440:
2439:
2438:
2433:
2432:
2427:
2426:
2422:
2414:
2413:Hailey–Hailey
2411:
2407:
2403:
2400:
2398:
2395:
2394:
2393:
2392:
2391:immune system
2388:
2384:
2381:
2380:
2379:
2378:
2374:
2373:
2371:
2367:
2357:
2354:
2352:
2349:
2347:
2344:
2342:
2339:
2337:
2334:
2332:
2329:
2328:
2325:
2322:
2320:
2317:
2313:
2310:
2309:
2308:
2307:
2303:
2301:
2298:
2296:
2293:
2292:
2290:
2286:
2278:
2274:
2271:
2269:
2266:
2265:
2264:
2263:
2259:
2255:
2252:
2251:
2250:
2249:
2245:
2243:
2239:
2238:
2235:
2232:
2230:
2227:
2225:
2222:
2220:
2217:
2215:
2212:
2210:
2207:
2205:
2201:
2198:
2197:
2192:
2189:
2187:
2184:
2180:
2177:
2175:
2172:
2171:
2170:
2167:
2165:
2162:
2160:
2157:
2155:
2151:
2148:
2146:
2143:
2139:
2136:
2134:
2131:
2130:
2129:
2128:
2124:
2122:
2119:
2117:
2114:
2110:
2107:
2106:
2105:
2104:
2100:
2098:
2095:
2091:
2088:
2086:
2083:
2081:
2078:
2077:
2076:
2075:
2071:
2070:
2068:
2067:
2064:
2061:
2059:
2056:
2054:
2051:
2049:
2045:
2042:
2041:
2039:
2037:
2033:
2030:
2028:
2027:keratinopathy
2023:
2019:
2013:
2010:
2008:
2005:
2003:
2000:
1997:
1993:
1990:
1988:
1985:
1984:
1982:
1980:
1976:
1972:
1966:
1962:
1959:
1957:
1954:
1952:
1949:
1947:
1944:
1942:
1939:
1937:
1933:
1930:
1929:
1927:
1925:
1921:
1915:
1912:
1910:
1907:
1905:
1902:
1900:
1896:
1895:
1890:
1887:
1885:
1882:
1881:
1880:
1877:
1876:
1871:
1868:
1866:
1863:
1861:
1858:
1856:
1853:
1852:
1851:
1848:
1847:
1842:
1839:
1837:
1834:
1832:
1829:
1827:
1824:
1822:
1819:
1817:
1814:
1813:
1812:
1809:
1808:
1806:
1802:
1798:
1788:
1785:
1783:
1780:
1778:
1775:
1773:
1770:
1768:
1765:
1763:
1760:
1758:
1755:
1754:
1752:
1748:
1742:
1739:
1738:
1736:
1734:
1730:
1724:
1721:
1719:
1716:
1714:
1711:
1710:
1705:
1702:
1701:
1700:
1697:
1695:
1691:
1688:
1687:
1685:
1683:
1679:
1673:
1670:
1669:
1667:
1665:
1661:
1658:
1656:
1651:
1647:
1644:
1642:
1638:
1634:
1630:
1626:
1619:
1614:
1612:
1607:
1605:
1600:
1599:
1596:
1583:
1579:
1578:
1574:
1572:
1568:
1567:
1563:
1562:
1559:
1555:
1548:
1544:
1543:
1539:
1537:
1533:
1532:
1528:
1526:
1522:
1521:
1517:
1515:
1511:
1510:
1506:
1502:
1500:
1496:
1495:
1491:
1487:
1486:
1483:
1478:
1474:
1467:
1459:
1458:0-7216-2921-0
1455:
1451:
1445:
1442:
1438:
1437:0-07-138076-0
1434:
1430:
1424:
1421:
1410:
1406:
1400:
1397:
1392:
1388:
1383:
1378:
1375:(6): 927–33.
1374:
1370:
1366:
1359:
1356:
1351:
1347:
1342:
1337:
1333:
1329:
1325:
1318:
1315:
1310:
1306:
1302:
1298:
1294:
1290:
1286:
1282:
1278:
1271:
1268:
1263:
1259:
1254:
1249:
1245:
1241:
1237:
1230:
1227:
1222:
1218:
1213:
1208:
1205:(2): 279–89.
1204:
1200:
1199:Am. J. Pathol
1196:
1189:
1186:
1181:
1177:
1172:
1167:
1163:
1159:
1155:
1148:
1145:
1140:
1136:
1132:
1128:
1124:
1120:
1116:
1112:
1105:
1102:
1097:
1093:
1089:
1085:
1078:
1076:
1072:
1067:
1063:
1059:
1055:
1051:
1047:
1040:
1038:
1034:
1029:
1025:
1021:
1017:
1013:
1009:
1005:
1001:
994:
991:
988:
981:
978:
973:
969:
966:(7): 401–13.
965:
961:
954:
951:
948:
941:
938:
935:
931:
925:
922:
917:
913:
908:
903:
899:
895:
891:
884:
881:
878:
872:
869:
866:
859:
856:
853:
846:
843:
840:
833:
830:
827:
820:
817:
814:
807:
804:
799:
795:
790:
785:
781:
777:
773:
769:
765:
758:
755:
750:
746:
742:
738:
734:
730:
726:
722:
715:
712:
708:
704:
703:
697:
695:
691:
686:
682:
677:
672:
669:(3): 483–91.
668:
664:
660:
653:
650:
645:
641:
636:
631:
626:
621:
617:
613:
609:
605:
601:
594:
591:
586:
582:
577:
572:
567:
562:
558:
554:
550:
546:
542:
535:
533:
529:
526:
522:
517:
514:
509:
503:
499:
492:
490:
488:
486:
482:
477:
471:
467:
460:
457:
450:
446:
443:
441:
438:
437:
433:
431:
425:
423:
416:
413:
410:
407:
406:
405:
398:
396:
393:
389:
388:dermatologist
380:
378:
376:
370:
368:
364:
360:
355:
346:
339:
337:
335:
334:gametogenesis
327:
322:
318:
315:
311:
307:
306:
305:
302:
294:
292:
290:
285:
283:
278:
276:
272:
268:
264:
260:
256:
251:
249:
245:
241:
237:
228:
221:
219:
217:
211:
209:
205:
201:
197:
193:
189:
185:
180:
176:
172:
168:
164:
160:
156:
152:
148:
144:
136:
134:
126:
119:
117:
115:
114:Ancient Greek
111:
107:
103:
99:
95:
91:
88:(abbreviated
87:
77:
71:
68:
66:
62:
58:
53:
49:
44:
40:
36:
31:
19:
3599:
3530:Cytochrome b
3478:
3456:
3443:
3404:
3371:
3068:
3026:
2996:
2968:
2940:
2927:
2914:
2901:
2878:
2867:Dyslipidemia
2865:
2847:
2476:Nasal glioma
2466:Dermoid cyst
2435:
2429:
2418:
2417:
2402:Mastocytosis
2389:
2383:EEM syndrome
2375:
2304:
2260:
2246:
2125:
2101:
2072:
1740:
1633:skin disease
1575:
1564:
1540:
1529:
1518:
1503:
1488:
1449:
1444:
1428:
1423:
1412:. Retrieved
1408:
1399:
1372:
1368:
1358:
1334:(4): 346–8.
1331:
1327:
1317:
1284:
1280:
1270:
1246:(2): 314–9.
1243:
1239:
1229:
1202:
1198:
1188:
1161:
1157:
1147:
1114:
1110:
1104:
1090:(2): 103–7.
1087:
1084:Genet. Couns
1083:
1052:(2): 146–8.
1049:
1045:
1006:(4): 355–7.
1003:
999:
993:
980:
963:
959:
953:
940:
929:
924:
897:
893:
883:
871:
858:
845:
832:
819:
806:
771:
767:
757:
727:(2): 81–95.
724:
720:
714:
700:
666:
662:
652:
607:
603:
593:
548:
544:
516:
497:
465:
459:
429:
420:
402:
384:
371:
351:
348:DHEA sulfate
331:
325:
324:copy of the
320:
309:
300:
298:
288:
286:
281:
279:
274:
270:
267:heterozygous
262:
254:
252:
243:
235:
233:
216:obstetrician
212:
195:
140:
131:
105:
89:
85:
84:
56:
3502:Sex steroid
3445:aldosterone
3433:(including
3406:desmosterol
3364:cholesterol
2780:Hematologic
2639:Skin dimple
2248:desmoplakin
2240:ungrouped:
2127:Cathepsin C
2103:plakoglobin
1804:and related
1158:Endocr. Rev
38:Other names
3624:Categories
3534:deficiency
3331:Mevalonate
2849:Amino acid
2069:syndromic
1992:Cutis laxa
1979:Connective
1629:integument
1625:Congenital
1542:DiseasesDB
1414:2022-04-03
1000:Hum. Genet
451:References
440:Ichthyosis
259:hemizygous
208:hemostasis
159:arrhythmia
3567:estrogens
3512:androgens
3462:cortisone
2840:Metabolic
2808:Endocrine
2707:disorders
2659:Birthmark
2452:anomalies
2419:see also
1897:related:
1750:Ungrouped
1566:eMedicine
1301:0003-987X
749:243176269
707:eMedicine
414:acitretin
399:Treatment
381:Diagnosis
65:Specialty
3458:cortisol
3421:Steroids
3121:Urologic
3096:Duchenne
2705:X-linked
2377:cadherin
2262:connexin
2200:punctate
2074:connexin
1577:Orphanet
1571:derm/191
1350:16191859
1262:15009711
1180:15561802
1139:22124602
1131:17604157
1066:11477606
916:15888481
798:32139392
741:12553849
523:(OMIM):
434:See also
367:estrogen
222:Genetics
3333:pathway
2942:Mineral
2459:Midline
2044:diffuse
1975:Elastic
1536:D016114
1391:9175741
1309:2965549
1221:6929654
1212:1903491
1096:7546451
1028:2625156
1020:6582028
972:3531932
789:7525778
685:1539590
676:1684279
644:3480541
612:Bibcode
585:3474618
553:Bibcode
426:History
210:in XLI
100:of the
92:) is a
3027:Other:
2727:Immune
2306:ATP2A2
1870:JEB-PA
1841:EBS-MP
1836:EBS-MD
1831:EBS-OG
1826:EBS-DM
1821:EBS-WC
1525:308100
1456:
1435:
1409:Timber
1389:
1348:
1307:
1299:
1260:
1219:
1209:
1178:
1137:
1129:
1094:
1064:
1026:
1018:
970:
914:
796:
786:
747:
739:
683:
673:
642:
635:299730
632:
583:
576:305121
573:
504:
472:
184:memory
175:autism
72:
3593:Other
3479:both:
3408:path:
3375:path:
3153:tooth
3040:SMAX2
2496:Nevus
2369:Other
2288:Other
2150:focal
1860:Mitis
1855:JEB-H
1816:EBS-K
1547:29136
1514:757.1
1499:Q80.1
1135:S2CID
1024:S2CID
745:S2CID
3149:Bone
3050:Skin
2990:PHF8
2760:IPEX
1889:RDEB
1884:DDEB
1531:MeSH
1520:OMIM
1509:9-CM
1454:ISBN
1433:ISBN
1387:PMID
1346:PMID
1305:PMID
1297:ISSN
1258:PMID
1217:PMID
1176:PMID
1127:PMID
1092:PMID
1062:PMID
1016:PMID
985:URL:
968:PMID
912:PMID
863:URL:
850:URL:
824:URL:
811:URL:
794:PMID
737:PMID
681:PMID
640:PMID
581:PMID
502:ISBN
470:ISBN
361:and
352:The
234:The
177:and
94:skin
3565:To
3510:To
3435:CAH
3362:To
2277:KID
2273:HID
2036:PPK
1879:DEB
1850:JEB
1811:EBS
1582:461
1505:ICD
1490:ICD
1377:doi
1336:doi
1289:doi
1285:124
1248:doi
1244:122
1207:PMC
1166:doi
1119:doi
1115:105
1054:doi
1050:102
1008:doi
902:doi
784:PMC
776:doi
729:doi
705:at
671:PMC
630:PMC
620:doi
571:PMC
561:doi
354:STS
326:STS
321:STS
310:STS
301:STS
289:STS
282:STS
275:STS
271:STS
263:STS
255:STS
244:STS
236:STS
196:STS
192:VCX
165:or
145:or
106:STS
90:XLI
57:STS
3626::
2906::
2434:,
2428:,
2423:,
2202::
2152::
2046::
1801:EB
1733:XR
1692::
1682:AR
1664:AD
1631:/
1580::
1569::
1545::
1534::
1523::
1512::
1497::
1494:10
1407:.
1385:.
1371:.
1367:.
1344:.
1332:85
1330:.
1326:.
1303:.
1295:.
1283:.
1279:.
1256:.
1242:.
1238:.
1215:.
1203:99
1201:.
1197:.
1174:.
1162:26
1160:.
1156:.
1133:.
1125:.
1113:.
1086:.
1074:^
1060:.
1048:.
1036:^
1022:.
1014:.
1004:65
1002:.
964:41
962:.
910:.
898:14
896:.
892:.
792:.
782:.
772:57
770:.
766:.
743:.
735:.
723:.
693:^
679:.
667:50
665:.
661:.
638:.
628:.
618:.
608:84
606:.
602:.
579:.
569:.
559:.
549:84
547:.
543:.
531:^
484:^
3532:5
3464::
3460:/
3447::
3437:)
3315:e
3308:t
3301:v
3151:/
3094:/
3011:)
3009:1
3007:(
2972::
2949:/
2944::
2931::
2918::
2882::
2869::
2851::
2818:/
2697:e
2690:t
2683:v
2404:/
2275:/
2024:/
1998:)
1994:(
1977:/
1963:/
1934:/
1652:/
1617:e
1610:t
1603:v
1507:-
1492:-
1482:D
1460:.
1439:.
1417:.
1393:.
1379::
1373:6
1352:.
1338::
1311:.
1291::
1264:.
1250::
1223:.
1182:.
1168::
1141:.
1121::
1098:.
1088:6
1068:.
1056::
1030:.
1010::
974:.
918:.
904::
800:.
778::
751:.
731::
725:4
687:.
646:.
622::
614::
587:.
563::
555::
510:.
478:.
20:)
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
