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The skin is normal at birth. Between 3 and 6 months of age, the affected carrier develops poikiloderma on the cheeks. This characteristic "rash" that all RTS carriers have can develop on the arms, legs and buttocks. "Poikiloderma consists of areas of increased and decreased pigmentation, prominent
64:
Panel showing some clinical features of the RTS syndrome. A) Chronic phase of cheek poikiloderma (4-year-old girl). B) Poikiloderma with alopecia (21-year-old boy). C) Poikiloderma. D) Poikiloderma sparing the trunk (courtesy of
Professor M. Paradisi, Rome). E) Photo distributed poikiloderma and
1171:
1901:
1049:
1029:
266:(chromosome 8 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both
2251:
65:
valgism of the knees. F) Thumb aplasia (patient B). G) Bone defect seen by X-Rays: cystic-like destructive lesion of the humerus (distal epiphysis) without apparent solution of continuity of the cortical bone (patient E).
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Understanding RTS pamphlet, RTS Team: Lisa L. Wang (Oncologist), Moise L. Levy (dermatologist), Richard A. Lewis (Ophthalmologist), Sharon E. Plon (Geneticist)
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262:. The disorder is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an
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286:(HR)-dependent double-strand break repair. When RECQL4 is depleted, HR-mediated repair and 5’ end resection are severely reduced
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708:
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695:
Wang LL, Levy ML, Lewis RA, et al. (2001). "Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients".
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Lu, Linchao; Jin, Weidong; Wang, Lisa L. (2016). "Aging in
Rothmund-Thomson syndrome and related RECQL4 genetic disorders".
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Larizza L, Magnani I, Roversi G (January 2006). "Rothmund–Thomson syndrome and RECQL4 defect: Splitting and lumping".
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306:. The association of deficient RECQL4-mediated DNA repair with accelerated aging is consistent with the
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1980:
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742:
Lu L, Jin W, Wang LL (2017). "Aging in
Rothmund-Thomson syndrome and related RECQL4 genetic disorders".
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one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
259:
102:
787:"Senescence induced by RECQL4 dysfunction contributes to Rothmund-Thomson syndrome features in mice"
540:
Raza N, Malik QU, Hussain Z (2007). "Rothmund-Thomson syndrome: more than just a cosmetic concern".
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648:"Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome"
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Congenital bone defects, including short stature and radial ray anomalies such as absent thumbs
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Sangrithi MN, Bernal JA, Madine M, Philpott A, Lee J, Dunphy WG, Venkitaraman AR (Jun 2005).
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Lu H, Shamanna RA, Keijzers G, Anand R, Rasmussen LJ, Cejka P, Croteau DL, Bohr VA (2016).
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Lu H, Fang EF, Sykora P, Kulikowicz T, Zhang Y, Becker KG, Croteau DL, Bohr VA (2014).
607:"Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome"
517:
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Ear problems (not documented in journals but identified by patients in support groups)
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Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome
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Rothmund–Thomson syndrome has an autosomal recessive pattern of inheritance.
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851:"RECQL4 Promotes DNA End Resection in Repair of DNA Double-Strand Breaks"
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113:
99:
1021:
709:
10.1002/1096-8628(20010722)102:1<11::AID-AJMG1413>3.0.CO;2-A
2487:
1977:
Template:Congenital malformations and deformations of skin appendages
1861:
1033:
251:
226:
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128:
2051:
424:
List of radiographic findings associated with cutaneous conditions
240:
210:
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1069:
1042:
837:
449:
2491:
2233:
1710:
Focal palmoplantar keratoderma with oral mucosal hyperkeratosis
1153:
463:
Andrews' Diseases of the Skin: Clinical
Dermatology (10th ed.)
356:
317:
279:
121:
213:. These features include atrophic skin and pigment changes,
166:
Hair growth problems (absent eyelashes, eyebrows and/or hair)
994:
GeneReviews/NCBI/NIH/UW entry on
Rothmund-Thomson Syndrome
290:. RECQL4 also appears to be necessary for other forms of
2125:
Congenital hypertrophy of the lateral fold of the hallux
1993:
Template:DNA replication and repair-deficiency disorder
372:
333:
108:
There have been several reported cases associated with
461:
James, William; Berger, Timothy; Elston, Dirk (2005).
1011:
404:(1894–1969) published further descriptions in 1936.
282:
end resection that is the initial step required for
209:, can have several clinical features of accelerated
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2534:
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2014:
2005:
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1529:
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1355:
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1236:
1218:
1204:
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1101:
1015:
951:"Poikiloderma Congenitale: Two Cases for Diagnosis"
69:
40:
35:
199:In humans, individuals with RTS, and carrying the
1609:Diffuse nonepidermolytic palmoplantar keratoderma
1333:Nonbullous congenital ichthyosiform erythroderma
605:Hicks MJ, Roth JR, Kozinetz CA, Wang LL (2007).
489:Larizza, L.; Roversi, G.; Volpi, L. (Jan 2010).
2718:DNA replication and repair-deficiency disorders
1798:Palmoplantar keratoderma and spastic paraplegia
737:
735:
2693:DNA replication and repair-deficiency disorder
1604:Diffuse epidermolytic palmoplantar keratoderma
2503:
2245:
2135:Congenital malformations of the dermatoglyphs
1165:
180:Calcium problems (not documented in journals)
8:
233:mutants show features of accelerated aging.
132:gene, causing problems during initiation of
2680:Marfanoid–progeroid–lipodystrophy syndrome
2531:
2510:
2496:
2488:
2330:
2252:
2238:
2230:
2160:Melanotic neuroectodermal tumor of infancy
2011:
1897:Keratosis follicularis spinulosa decalvans
1587:
1328:Ichthyosis–sclerosing cholangitis syndrome
1215:
1201:
1172:
1158:
1150:
1012:
396:The condition was originally described by
191:blood vessels, and thinning of the skin."
80:
55:
32:
2386:Hereditary nonpolyposis colorectal cancer
2120:Congenital cartilaginous rest of the neck
1715:Focal palmoplantar and gingival keratosis
966:
874:
810:
663:
622:
516:
506:
2185:Rapidly involuting congenital hemangioma
1775:Keratosis punctata of the palmar creases
1770:Keratosis punctata palmaris et plantaris
1641:Clouston's hidrotic ectodermal dysplasia
27:Rare autosomal recessive skin condition.
484:
482:
435:
441:
439:
45:Poikiloderma atrophicans with cataract
1246:Congenital ichthyosiform erythroderma
565:
563:
136:has been implicated in the syndrome.
7:
2604:Hutchinson–Gilford progeria syndrome
1907:Keratosis pilaris atrophicans faciei
1492:Dermatopathia pigmentosa reticularis
834:Online Mendelian Inheritance in Man
446:Online Mendelian Inheritance in Man
249:RTS is caused by a mutation of the
2200:Superficial lymphatic malformation
2145:Congenital smooth muscle hamartoma
1614:Palmoplantar keratoderma of Sybert
1183:malformations and deformations of
414:Poikiloderma vasculare atrophicans
145:Sun-sensitive rash with prominent
25:
1672:Scleroatrophic syndrome of Huriez
1502:Hypohidrotic ectodermal dysplasia
495:Orphanet Journal of Rare Diseases
2753:Diseases named after discoverers
2473:Severe combined immunodeficiency
1785:Porokeratosis plantaris discreta
1742:Striate palmoplantar keratoderma
999:Poikiloderma of Rothmund-Thomson
360:
321:
2396:Mismatch repair cancer syndrome
2210:Verrucous vascular malformation
2140:Congenital preauricular fistula
2110:Accessory nail of the fifth toe
1987:Template:Pigmentation disorders
1780:Schöpf–Schulz–Passarge syndrome
1760:Acrokeratoelastoidosis of Costa
1465:Laryngoonychocutaneous syndrome
1338:Ichthyosis linearis circumflexa
1323:Ichthyosis prematurity syndrome
2269:DNA repair-deficiency disorder
1824:Erythrokeratodermia variabilis
1735:Pachyonychia congenita type II
225:and an increased incidence of
1:
2713:Autosomal recessive disorders
2150:Cystic lymphatic malformation
2103:Cavernous venous malformation
1730:Pachyonychia congenita type I
1653:Corneodermatoosseous syndrome
1313:Ichthyosis bullosa of Siemens
278:RECQL4 has a crucial role in
2733:Syndromes affecting the skin
2640:DeSanctis–Cacchione syndrome
2347:DeSanctis–Cacchione syndrome
2293:Aicardi–Goutières syndrome 4
1558:Popliteal pterygium syndrome
1250:Epidermolytic hyperkeratosis
867:10.1016/j.celrep.2016.05.079
584:10.1016/j.canlet.2005.07.042
419:List of cutaneous conditions
172:has not been well documented
2748:Syndromes affecting the eye
2743:Syndromes affecting stature
2190:Rosenthal–Kloepfer syndrome
2175:Omphalomesenteric duct cyst
1892:Keratolytic winter erythema
1552:Gerodermia osteodysplastica
491:"Rothmund-Thomson syndrome"
2769:
2645:Nijmegen breakage syndrome
2419:Nijmegen breakage syndrome
2335:Nucleotide excision repair
1765:Focal acral hyperkeratosis
1512:Ellis–van Creveld syndrome
665:10.1016/j.cell.2005.05.015
542:J Coll Physicians Surg Pak
308:DNA damage theory of aging
300:nucleotide excision repair
296:non-homologous end joining
2688:
2554:Rothmund–Thomson syndrome
2452:Rothmund–Thomson syndrome
1689:Papillon–Lefèvre syndrome
1260:Harlequin-type ichthyosis
1127:Rothmund-Thomson Syndrome
949:Thomson, MS. (Mar 1936).
912:10.1016/j.arr.2016.06.002
756:10.1016/j.arr.2016.06.002
465:. Saunders. p. 576.
92:Rothmund–Thomson syndrome
63:
54:
36:Rothmund–Thomson syndrome
1563:Pseudoxanthoma elasticum
1279:Sjögren–Larsson syndrome
624:10.1200/JCO.2006.08.4558
284:homologous recombination
49:Poikiloderma congenitale
18:Poikiloderma congenitale
2618:Other/related disorders
2284:Separation/initiation:
2088:Aplasia cutis congenita
1507:Focal dermal hypoplasia
1470:Skin fragility syndrome
1318:Ichthyosis follicularis
900:Ageing Research Reviews
2655:Dyskeratosis congenita
2635:Baller–Gerold syndrome
2609:Restrictive dermopathy
2564:NER protein-associated
2314:Dyskeratosis congenita
2205:Thyroglossal duct cyst
2170:Nasolacrimal duct cyst
2093:Amniotic band syndrome
1887:Dyskeratosis congenita
1875:Dyskeratosis congenita
1725:Pachyonychia congenita
1636:Bart–Pumphrey syndrome
1568:Van der Woude syndrome
1543:Ehlers–Danlos syndrome
803:10.1038/cddis.2014.168
402:Matthew Sydney Thomson
369:This section is empty.
330:This section is empty.
246:
2660:Ataxia telangiectasia
2577:Xeroderma pigmentosum
2414:Ataxia–telangiectasia
2357:Xeroderma pigmentosum
2070:Nevus flammeus nuchae
1981:Template:Phakomatoses
1953:Hereditary lymphedema
1517:Rapp–Hodgkin syndrome
1206:Congenital ichthyosis
508:10.1186/1750-1172-5-2
400:(1830–1906) in 1868.
244:
186:Produces osteosarcoma
2625:Li–Fraumeni syndrome
2468:Li–Fraumeni syndrome
2060:Capillary hemangioma
1962:Urticaria pigmentosa
1720:Howel–Evans syndrome
1480:Ectodermal dysplasia
1421:Generalized atrophic
304:base excision repair
2738:Progeroid syndromes
2630:Rapadilino syndrome
2582:Trichothiodystrophy
2519:Progeroid syndromes
2456:RAPADILINO syndrome
2391:Muir–Torre syndrome
2378:DNA mismatch repair
1747:Tyrosinemia type II
1297:X-linked ichthyosis
1255:Lamellar ichthyosis
1228:Ichthyosis vulgaris
1211:erythrokeratodermia
398:August von Rothmund
149:and telangiectasias
2130:Congenital lip pit
1694:Haim–Munk syndrome
1646:Vohwinkel syndrome
1521:Hay–Wells syndrome
1497:Hay–Wells syndrome
1343:Ichthyosis hystrix
1269:Netherton syndrome
1102:External resources
497:(Free full text).
247:
140:Signs and symptoms
2700:
2699:
2670:PIBI(D)S syndrome
2665:De Barsy syndrome
2590:
2589:
2572:Cockayne syndrome
2485:
2484:
2481:
2480:
2343:Cockayne syndrome
2261:Metabolic disease
2227:
2226:
2223:
2222:
2155:Median raphe cyst
2115:Bronchogenic cyst
2037:PHACE association
2001:
2000:
1920:
1919:
1912:Keratosis pilaris
1856:Keratosis pilaris
1810:Carvajal syndrome
1790:Spiny keratoderma
1455:Costello syndrome
1351:
1350:
1147:
1146:
697:Am. J. Med. Genet
472:978-0-7216-2921-6
389:
388:
350:
349:
255:gene, located at
229:. Also in mice,
195:Accelerated aging
89:
88:
30:Medical condition
16:(Redirected from
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2505:
2498:
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2331:
2254:
2247:
2240:
2231:
2042:Sinus pericranii
2012:
1868:Darier's disease
1677:Olmsted syndrome
1588:
1488:Naegeli syndrome
1460:Kindler syndrome
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371:You can help by
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105:skin condition.
85:
84:
76:Medical genetics
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2544:Werner syndrome
2536:RecQ-associated
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2516:
2486:
2477:
2447:Werner syndrome
2423:
2400:
2368:
2320:
2277:DNA replication
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2265:DNA replication
2258:
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2081:Other/ungrouped
2076:
2065:Port-wine stain
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744:Ageing Res. Rev
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134:DNA replication
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2723:Genodermatoses
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2650:Fanconi anemia
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2549:Bloom syndrome
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2463:Fanconi anemia
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2442:Bloom syndrome
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2364:IBIDS syndrome
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2212:
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2197:
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2187:
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2180:Poland anomaly
2177:
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2167:
2165:Mongolian spot
2162:
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2152:
2147:
2142:
2137:
2132:
2127:
2122:
2117:
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2100:
2098:Branchial cyst
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1971:
1966:
1965:
1964:
1955:
1943:
1942:
1941:
1928:
1926:
1922:
1921:
1918:
1917:
1915:
1914:
1909:
1904:
1899:
1894:
1889:
1883:
1882:
1880:Lelis syndrome
1877:
1872:
1871:
1870:
1858:
1853:
1851:Meleda disease
1847:
1845:
1841:
1840:
1838:
1837:
1836:
1835:
1826:
1814:
1813:
1812:
1800:
1793:
1792:
1787:
1782:
1777:
1772:
1767:
1762:
1752:
1751:
1750:
1749:
1744:
1739:
1738:
1737:
1732:
1722:
1717:
1712:
1703:
1701:Camisa disease
1698:
1697:
1696:
1691:
1679:
1674:
1669:
1668:
1667:
1665:Naxos syndrome
1655:
1650:
1649:
1648:
1643:
1638:
1622:
1621:
1619:Meleda disease
1616:
1611:
1606:
1596:
1594:
1585:
1578:Hyperkeratosis
1574:
1573:
1571:
1570:
1565:
1560:
1555:
1545:
1539:
1537:
1527:
1526:
1524:
1523:
1514:
1509:
1504:
1499:
1494:
1484:
1482:
1476:
1475:
1473:
1472:
1467:
1462:
1457:
1450:
1449:
1448:
1447:
1442:
1431:
1430:
1429:
1428:
1423:
1418:
1413:
1402:
1401:
1400:
1399:
1394:
1389:
1384:
1379:
1374:
1363:
1361:
1353:
1352:
1349:
1348:
1346:
1345:
1340:
1335:
1330:
1325:
1320:
1315:
1309:
1307:
1303:
1302:
1300:
1299:
1293:
1291:
1285:
1284:
1282:
1281:
1276:
1274:CHIME syndrome
1271:
1265:
1264:
1263:
1262:
1252:
1242:
1240:
1234:
1233:
1231:
1230:
1224:
1222:
1213:
1199:
1197:Genodermatosis
1193:
1192:
1179:
1177:
1176:
1169:
1162:
1154:
1145:
1144:
1141:
1140:
1129:
1118:
1106:
1105:
1103:
1099:
1098:
1095:
1094:
1083:
1072:
1061:
1046:
1025:
1020:
1019:
1017:
1016:Classification
1010:
1009:
996:
989:
988:External links
986:
983:
982:
955:Proc R Soc Med
941:
890:
841:
826:
791:Cell Death Dis
777:
731:
722:
687:
638:
611:J. Clin. Oncol
597:
578:(1): 107–120.
572:Cancer Letters
559:
548:(7): 423–424.
532:
478:
471:
453:
434:
433:
431:
428:
427:
426:
421:
416:
409:
406:
393:
390:
387:
386:
367:
365:
354:
351:
348:
347:
328:
326:
315:
312:
275:
272:
238:
235:
196:
193:
188:
187:
184:
181:
178:
173:
167:
164:
161:
156:
150:
141:
138:
87:
86:
73:
67:
66:
61:
60:
52:
51:
42:
38:
37:
29:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
2765:
2754:
2751:
2749:
2746:
2744:
2741:
2739:
2736:
2734:
2731:
2729:
2728:Rare diseases
2726:
2724:
2721:
2719:
2716:
2714:
2711:
2710:
2708:
2695:
2694:
2687:
2681:
2678:
2676:
2675:BIDS syndrome
2673:
2671:
2668:
2666:
2663:
2661:
2658:
2656:
2653:
2651:
2648:
2646:
2643:
2641:
2638:
2636:
2633:
2631:
2628:
2626:
2623:
2622:
2620:
2616:
2610:
2607:
2605:
2602:
2601:
2599:
2597:
2593:
2583:
2580:
2578:
2575:
2573:
2570:
2569:
2567:
2565:
2561:
2555:
2552:
2550:
2547:
2545:
2542:
2541:
2539:
2537:
2533:
2530:
2528:
2524:
2520:
2513:
2508:
2506:
2501:
2499:
2494:
2493:
2490:
2474:
2471:
2469:
2466:
2464:
2461:
2457:
2453:
2450:
2448:
2445:
2443:
2440:
2439:
2438:
2437:
2436:RecQ helicase
2433:
2432:
2430:
2426:
2420:
2417:
2415:
2412:
2411:
2409:
2407:
2403:
2397:
2394:
2392:
2389:
2387:
2384:
2383:
2381:
2379:
2375:
2371:
2365:
2362:
2358:
2355:
2354:
2353:
2352:Thymine dimer
2350:
2348:
2344:
2341:
2340:
2338:
2336:
2332:
2329:
2327:
2323:
2315:
2312:
2311:
2310:
2309:
2304:
2300:
2299:
2294:
2291:
2290:
2289:
2288:
2283:
2282:
2280:
2278:
2274:
2270:
2266:
2262:
2255:
2250:
2248:
2243:
2241:
2236:
2235:
2232:
2216:
2213:
2211:
2208:
2206:
2203:
2201:
2198:
2196:
2193:
2191:
2188:
2186:
2183:
2181:
2178:
2176:
2173:
2171:
2168:
2166:
2163:
2161:
2158:
2156:
2153:
2151:
2148:
2146:
2143:
2141:
2138:
2136:
2133:
2131:
2128:
2126:
2123:
2121:
2118:
2116:
2113:
2111:
2108:
2107:
2104:
2101:
2099:
2096:
2094:
2091:
2089:
2086:
2085:
2083:
2079:
2071:
2068:
2067:
2066:
2063:
2061:
2058:
2057:
2055:
2053:
2049:
2043:
2040:
2038:
2035:
2033:
2030:
2028:
2027:Encephalocele
2025:
2023:
2020:
2019:
2017:
2013:
2010:
2006:Developmental
2004:
1996:
1995:
1994:
1989:
1988:
1983:
1982:
1978:
1970:
1969:Hailey–Hailey
1967:
1963:
1959:
1956:
1954:
1951:
1950:
1949:
1948:
1947:immune system
1944:
1940:
1937:
1936:
1935:
1934:
1930:
1929:
1927:
1923:
1913:
1910:
1908:
1905:
1903:
1900:
1898:
1895:
1893:
1890:
1888:
1885:
1884:
1881:
1878:
1876:
1873:
1869:
1866:
1865:
1864:
1863:
1859:
1857:
1854:
1852:
1849:
1848:
1846:
1842:
1834:
1830:
1827:
1825:
1822:
1821:
1820:
1819:
1815:
1811:
1808:
1807:
1806:
1805:
1801:
1799:
1795:
1794:
1791:
1788:
1786:
1783:
1781:
1778:
1776:
1773:
1771:
1768:
1766:
1763:
1761:
1757:
1754:
1753:
1748:
1745:
1743:
1740:
1736:
1733:
1731:
1728:
1727:
1726:
1723:
1721:
1718:
1716:
1713:
1711:
1707:
1704:
1702:
1699:
1695:
1692:
1690:
1687:
1686:
1685:
1684:
1680:
1678:
1675:
1673:
1670:
1666:
1663:
1662:
1661:
1660:
1656:
1654:
1651:
1647:
1644:
1642:
1639:
1637:
1634:
1633:
1632:
1631:
1627:
1626:
1624:
1623:
1620:
1617:
1615:
1612:
1610:
1607:
1605:
1601:
1598:
1597:
1595:
1593:
1589:
1586:
1584:
1583:keratinopathy
1579:
1575:
1569:
1566:
1564:
1561:
1559:
1556:
1553:
1549:
1546:
1544:
1541:
1540:
1538:
1536:
1532:
1528:
1522:
1518:
1515:
1513:
1510:
1508:
1505:
1503:
1500:
1498:
1495:
1493:
1489:
1486:
1485:
1483:
1481:
1477:
1471:
1468:
1466:
1463:
1461:
1458:
1456:
1452:
1451:
1446:
1443:
1441:
1438:
1437:
1436:
1433:
1432:
1427:
1424:
1422:
1419:
1417:
1414:
1412:
1409:
1408:
1407:
1404:
1403:
1398:
1395:
1393:
1390:
1388:
1385:
1383:
1380:
1378:
1375:
1373:
1370:
1369:
1368:
1365:
1364:
1362:
1358:
1354:
1344:
1341:
1339:
1336:
1334:
1331:
1329:
1326:
1324:
1321:
1319:
1316:
1314:
1311:
1310:
1308:
1304:
1298:
1295:
1294:
1292:
1290:
1286:
1280:
1277:
1275:
1272:
1270:
1267:
1266:
1261:
1258:
1257:
1256:
1253:
1251:
1247:
1244:
1243:
1241:
1239:
1235:
1229:
1226:
1225:
1223:
1221:
1217:
1214:
1212:
1207:
1203:
1200:
1198:
1194:
1190:
1186:
1182:
1175:
1170:
1168:
1163:
1161:
1156:
1155:
1152:
1139:
1135:
1134:
1130:
1128:
1124:
1123:
1119:
1117:
1113:
1112:
1108:
1107:
1104:
1100:
1093:
1089:
1088:
1084:
1082:
1078:
1077:
1073:
1071:
1067:
1066:
1062:
1060:
1056:
1055:
1051:
1047:
1044:
1040:
1036:
1035:
1031:
1027:
1026:
1023:
1018:
1014:
1008:
1007:Rare Diseases
1005:'s Office of
1004:
1000:
997:
995:
992:
991:
987:
978:
974:
969:
964:
960:
956:
952:
945:
942:
937:
933:
929:
925:
921:
917:
913:
909:
905:
901:
894:
891:
886:
882:
877:
872:
868:
864:
861:(1): 161–73.
860:
856:
852:
845:
842:
839:
835:
830:
827:
822:
818:
813:
808:
804:
800:
796:
792:
788:
781:
778:
773:
769:
765:
761:
757:
753:
749:
745:
738:
736:
732:
726:
723:
718:
714:
710:
706:
702:
698:
691:
688:
683:
679:
675:
671:
666:
661:
658:(6): 887–98.
657:
653:
649:
642:
639:
634:
630:
625:
620:
616:
612:
608:
601:
598:
593:
589:
585:
581:
577:
573:
566:
564:
560:
555:
551:
547:
543:
536:
533:
528:
524:
519:
514:
509:
504:
500:
496:
492:
485:
483:
479:
474:
468:
464:
457:
454:
451:
447:
442:
440:
436:
429:
425:
422:
420:
417:
415:
412:
411:
407:
405:
403:
399:
391:
383:
374:
370:
366:
363:
359:
358:
352:
344:
335:
331:
327:
324:
320:
319:
313:
311:
309:
305:
301:
297:
293:
289:
285:
281:
273:
271:
269:
265:
261:
258:
254:
253:
243:
236:
234:
232:
228:
224:
220:
216:
212:
208:
204:
203:
194:
192:
185:
182:
179:
177:
174:
171:
168:
165:
162:
160:
157:
155:
151:
148:
144:
143:
139:
137:
135:
131:
130:
126:
123:
119:
115:
111:
106:
104:
101:
97:
93:
83:
77:
74:
72:
68:
62:
58:
53:
50:
46:
43:
39:
34:
19:
2690:
2553:
2451:
2434:
2306:
2301:Termination/
2285:
2032:Nasal glioma
2022:Dermoid cyst
1991:
1985:
1974:
1973:
1958:Mastocytosis
1945:
1939:EEM syndrome
1931:
1860:
1816:
1802:
1681:
1657:
1628:
1189:skin disease
1131:
1120:
1109:
1085:
1074:
1063:
1048:
1028:
961:(5): 453–5.
958:
954:
944:
903:
899:
893:
858:
854:
844:
829:
797:(5): e1226.
794:
790:
780:
747:
743:
725:
703:(1): 11–17.
700:
696:
690:
655:
651:
641:
617:(4): 370–5.
614:
610:
600:
575:
571:
545:
541:
535:
498:
494:
462:
456:
395:
377:
373:adding to it
368:
338:
334:adding to it
329:
287:
277:
250:
248:
230:
200:
198:
189:
170:Hypogonadism
147:poikiloderma
127:
110:osteosarcoma
107:
98:) is a rare
95:
91:
90:
48:
44:
2406:MRN complex
2195:Skin dimple
1804:desmoplakin
1796:ungrouped:
1683:Cathepsin C
1659:plakoglobin
1360:and related
1122:GeneReviews
380:August 2017
341:August 2017
159:Saddle nose
41:Other names
2707:Categories
2691:See also:
2527:DNA repair
2326:DNA repair
2303:telomerase
1625:syndromic
1548:Cutis laxa
1535:Connective
1185:integument
1181:Congenital
1087:DiseasesDB
430:References
353:Management
294:including
292:DNA repair
274:DNA repair
257:chromosome
219:osteopenia
176:Hypodontia
114:hereditary
2596:Lamin A/C
2215:Birthmark
2008:anomalies
1975:see also
1453:related:
1306:Ungrouped
1111:eMedicine
920:1568-1637
906:: 30–35.
750:: 30–35.
314:Diagnosis
223:cataracts
205:germline
154:cataracts
152:Juvenile
118:mutations
103:recessive
100:autosomal
71:Specialty
2287:RNASEH2A
1933:cadherin
1818:connexin
1756:punctate
1630:connexin
1133:Orphanet
1116:derm/379
1045:Q82.852)
977:19990626
936:28321025
928:27287744
885:27320928
855:Cell Rep
836:(OMIM):
821:24832598
772:28321025
764:27287744
717:11471165
682:15064074
674:15960976
633:17264332
592:16271439
554:17686357
527:20113479
448:(OMIM):
408:See also
264:autosome
215:alopecia
207:mutation
125:helicase
2015:Midline
1600:diffuse
1531:Elastic
1081:D011038
968:2076117
876:5576896
812:4047874
518:2826297
392:History
288:in vivo
120:in the
116:basis,
1862:ATP2A2
1426:JEB-PA
1397:EBS-MP
1392:EBS-MD
1387:EBS-OG
1382:EBS-DM
1377:EBS-WC
1070:268400
1059:757.33
975:
965:
934:
926:
918:
883:
873:
838:603780
819:
809:
770:
762:
715:
680:
672:
631:
590:
552:
525:
515:
469:
450:268400
260:8q24.3
252:RECQL4
237:Causes
231:RECQL4
227:cancer
202:RECQL4
129:RECQL4
78:
2428:Other
2052:Nevus
1925:Other
1844:Other
1706:focal
1416:Mitis
1411:JEB-H
1372:EBS-K
1092:29891
1039:Q82.8
932:S2CID
768:S2CID
678:S2CID
501:: 2.
268:carry
211:aging
2308:DKC1
2267:and
1445:RDEB
1440:DDEB
1138:2909
1076:MeSH
1065:OMIM
1054:9-CM
1043:ILDS
973:PMID
924:PMID
916:ISSN
881:PMID
817:PMID
760:PMID
713:PMID
670:PMID
652:Cell
629:PMID
588:PMID
550:PMID
523:PMID
467:ISBN
302:and
112:. A
2374:MSI
1833:KID
1829:HID
1592:PPK
1435:DEB
1406:JEB
1367:EBS
1050:ICD
1030:ICD
1003:NIH
1001:at
963:PMC
908:doi
871:PMC
863:doi
807:PMC
799:doi
752:doi
705:doi
701:102
660:doi
656:121
619:doi
580:doi
576:232
513:PMC
503:doi
375:.
336:.
280:DNA
122:DNA
96:RTS
47:or
2709::
2305::
2263::
1990:,
1984:,
1979:,
1758::
1708::
1602::
1357:EB
1289:XR
1248::
1238:AR
1220:AD
1187:/
1136::
1125::
1114::
1090::
1079::
1068::
1057::
1037::
1034:10
971:.
959:29
957:.
953:.
930:.
922:.
914:.
904:33
902:.
879:.
869:.
859:16
857:.
853:.
815:.
805:.
793:.
789:.
766:.
758:.
748:33
746:.
734:^
711:.
699:.
676:.
668:.
654:.
650:.
627:.
615:25
613:.
609:.
586:.
574:.
562:^
546:17
544:.
521:.
511:.
493:.
481:^
438:^
310:.
298:,
221:,
217:,
2511:e
2504:t
2497:v
2454:/
2376:/
2345:/
2253:e
2246:t
2239:v
1960:/
1831:/
1580:/
1554:)
1550:(
1533:/
1519:/
1490:/
1208:/
1173:e
1166:t
1159:v
1052:-
1041:(
1032:-
1022:D
979:.
938:.
910::
887:.
865::
823:.
801::
795:5
774:.
754::
719:.
707::
684:.
662::
635:.
621::
594:.
582::
556:.
529:.
505::
499:5
475:.
382:)
378:(
343:)
339:(
94:(
20:)
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
