453:
414:
387:
430:
399:
372:
545:(incomplete, or unusual form) variant, an examination of all family members must be undertaken. As an autosomal dominant trait there is a fifty percent chance with each child that they will also be born with the syndrome. Although fully penetrant, since the syndrome has variable expressivity, one generation may have a mild expression of the syndrome, while the next may be profoundly affected.
622:(protrusion of lower jaw) in 1936. Sporadic descriptions were added through the years. In 1962, cardiac abnormalities and short stature were first associated with the condition. In 1966, three familial cases were added, a mother, her son and daughter. Another case of mother to two separate children, with different paternity of the two children, was added in 1968.
51:
491:
The presence of the disease can be confirmed with a genetic test. In a study of 10 infants with clinical indications of NSML prior to their first birthday, 8 (80%) patients were confirmed to have the suspected mutation. An additional patient with the suspected mutation was subsequently found to have
482:
gene), which is a previously unrecognized behavior for this class of mutations. This interferes with growth factor and related signalling. While further research confirms this mechanism, additional research is needed to determine how this relates to all of the observed effects of NSML.
364:
Due to the rarity of the syndrome itself, it is hard to determine whether certain additional diseases are actually part of the syndrome. With a base population of possibly less than one thousand individuals, one or two outlying cases can skew the statistical population very quickly.
116:). The disease is a complex of features, mostly involving the skin, skeletal and cardiovascular systems, which may or may not be present in all patients. The nature of how the mutation causes each of the condition's symptoms is not well known; however, research is ongoing. It is a
588:
In itself, NSML is not a life-threatening diagnosis, most people diagnosed with the condition live normal lives. Obstructive cardiomyopathy and other pathologic findings involving the cardiovascular system may be a cause of death in those whose cardiac deformities are profound.
1634:
597:
Various literature describes the syndrome as being "rare" or "extremely rare". There is no epidemiologic data available regarding how many individuals have the syndrome worldwide; however, there are approximately 200 cases described in medical literature.
312:
present there are 2 other symptoms observed, such as ECG abnormalities and ocular hypertelorism, or without lentigines, 3 of the above conditions are present, with a first-degree relative (i.e. parent, child, sibling) with a clinical diagnosis.
548:
Once a decision to have children is made, and the couple conceives, the fetus is monitored during the pregnancy for cardiac evaluation. If a gross cardiac malformation is found, parents receive counseling on continuing with the pregnancy.
1627:
280:(single testicle). In female patients, this presents as missing or single ovaries, much harder by nature to detect. Ultrasound imaging is performed at regular intervals, from the age of 1 year, to determine if ovaries are present.
567:
For those who are disturbed by the appearance of lentigines, cryosurgery may be beneficial. Due to the large number of lentigines this may prove time-consuming. An alternative treatment with tretinoin or hydroquinone creams may
1620:
413:
44:
LEOPARD syndrome, cardiocutaneous syndrome, Gorlin syndrome II, lentiginosis profusa syndrome, progressive cardiomyopathic lentiginosis, Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome, Moynahan syndrome
2389:
1402:
Ahlbom BE, Dahl N, Zetterqvist P, Annerén G (1995). "Noonan syndrome with café-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus".
541:
It is recommended that those with the syndrome who are capable of having children seek genetic counseling before deciding to have children. As the syndrome presents frequently as a
386:
155:, originally coined in 1969, as the condition is characterized by some of the following seven conditions, the first letters of which spell LEOPARD, along with the characteristic "
538:
It is suggested that, once diagnosed, individuals be routinely followed by a cardiologist, endocrinologist, dermatologist, and other appropriate specialties as symptoms present.
2434:
1206:
429:
182:) generally occurring in a high number (10,000+) over a large portion of the skin, at times higher than 80% coverage. These can even appear inside the mouth (
2167:
944:
Uçar C, Calýskan U, Martini S, Heinritz W (March 2006). "Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive)".
1036:
Hanna N, Montagner A, Lee WH, et al. (2006). "Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1".
231:: Wideset eyes, which lead to a similar facial resemblance between patients. Facial abnormalities are the second highest occurring symptom after the
2019:
2424:
2346:
1765:
2409:
2098:
398:
286:: Slow, or stunted growth. Most newborns with this syndrome are of normal birth weight and length, but will often slow within the first year.
2439:
2374:
1882:
1837:
1775:
371:
1464:
571:
Drug therapies for those with cardiac abnormalities, as those abnormalities become severe enough to warrant the use of these therapies.
2236:
1706:
1686:
803:
1696:
2251:
688:
1946:
1755:
1711:
1390:
1750:
1649:
1088:
523:
519:
515:
511:
507:
469:
465:
420:
1274:"Multiple symmetrical moles, with psychic and somatic infantilism and genital hypoplasia: first male case of a new syndrome"
1210:
1954:
1902:
1820:
1569:
2172:
1770:
1139:
Digilio MC, Sarkozy A, de Zorzi A, et al. (2006). "LEOPARD syndrome: clinical diagnosis in the first year of life".
2196:
2150:
1978:
1231:
561:
107:
1993:
1321:
Walther RJ, Polansky BJ, Grotis IA (1966). "Electrocardiographic abnormalities in a family with generalized lentigo".
557:
526:
which seems to be a unique familial mutation, in that all other variants are caused by transition errors, rather than
2078:
1987:
1701:
868:
Voron DA, Hatfield HH, Kalkhoff RK (1976). "Multiple lentigines syndrome. Case report and review of the literature".
293:
2036:
1930:
2304:
1865:
1658:
2050:
1612:
2360:
1760:
1734:
1666:
1573:
1487:
642:
641:
is still sometimes used for diagnostic purposes, although it has been shown that the gene is not linked to the
638:
626:
493:
136:
2429:
2419:
2138:
2085:
1891:
2064:
1742:
905:"LEOPARD syndrome: a new polyaneurysm association and an update on the molecular genetics of the disease"
2182:
258:
208:
452:
2414:
1564:
1045:
378:
335:
322:
205:
191:
1594:
625:
It was believed as late as 2002 that Noonan
Syndrome with Multiple Lentigines (NSML) was related to
219:
392:
37-year-old patient (second generation), exhibiting hypertelorism, broad nasal root, slight ptosis
2220:
2090:
1851:
1746:
1676:
1427:
1164:
1069:
989:"Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease"
969:
572:
473:
457:
329:
242:
215:
99:
1245:
Zeisler EP, Becker SW (1936). "Generalized lentigo: its relation to systemic nonelevated nevi".
1801:
1527:
1498:
1419:
1373:
1338:
1303:
1156:
1110:
1061:
1018:
961:
926:
885:
850:
815:
784:
735:
684:
654:
503:
283:
128:
70:
1089:"PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects"
755:"Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis)"
2298:
2215:
2112:
2007:
1916:
1411:
1365:
1330:
1293:
1285:
1254:
1148:
1100:
1053:
1008:
1000:
953:
916:
877:
842:
774:
766:
725:
717:
615:
318:
246:
199:
75:
2210:
2177:
2104:
1815:
1671:
1538:
1189:
659:
405:
254:
132:
1605:
1258:
846:
1585:
1049:
2332:
2190:
2118:
1415:
1298:
1273:
1013:
988:
957:
779:
754:
730:
705:
269:
2403:
881:
611:
228:
91:
1431:
1168:
1073:
973:
139:(which was once thought to be related to NSML) is also common (1:3500); however, no
1785:
527:
439:
140:
63:
1118:
1057:
1600:
1492:
2161:
1969:
1544:
1522:
1369:
1334:
903:
Yagubyan M, Panneton JM, Lindor NM, Conti E, Sarkozy A, Pizzuti A (April 2004).
619:
236:
190:). These have irregular borders and range in size from 1 mm in diameter to
59:
17:
1580:
1289:
2279:
1549:
1503:
921:
904:
721:
277:
124:
2265:
1725:
1590:
1533:
1194:
706:"The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation"
576:
350:
305:
301:
273:
265:
225:
156:
117:
1307:
1160:
1114:
1105:
1065:
1022:
965:
930:
819:
804:"Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma"
739:
1423:
1377:
1342:
889:
854:
788:
50:
1152:
770:
357:
343:
339:
289:
211:
195:
152:
103:
1456:
2326:
2318:
2312:
2245:
2030:
833:
Gorlin RJ, Anderson RC, Blaw M (1969). "Multiple lentigenes syndrome".
607:
500:
309:
232:
175:
171:
164:
160:
419:
21-month-old, third generation patient, confirmed by genetic tests as
2354:
2340:
2259:
2204:
1965:
1910:
478:
317:
Additional dermatologic abnormalities (axillary freckling, localized
187:
179:
112:
1004:
575:
are mandatory prior to any surgical interventions, due to possible
58:
Three-quarter facial view, first-generation patient showing slight
2072:
2058:
2044:
2001:
1896:
1859:
1845:
1831:
634:
451:
435:
250:
183:
1209:. NORD — National Organization for Rare Disorders. Archived from
802:
Tullu MS, Muranjan MN, Kantharia VC, et al. (1 April 2000).
2368:
2273:
2132:
2126:
1924:
1876:
1809:
1795:
1481:
1478:
1475:
1472:
1469:
1356:
Matthews NL (1968). "Lentigo and electrocardiographic changes".
1087:
Kontaridis MI, Swanson KD, David FS, Barford D, Neel BG (2006).
637:
lack a specific diagnosis code for NSML, the diagnosis code for
630:
460:
fashion, although it can also arise due to spontaneous mutation.
438:
of thirty-seven-year-old, second-generation patient, exhibiting
346:(reduced ability to smell) has been documented in a few patients
95:
1616:
349:
In 2004, a patient was reported with recurrent upper extremity
1643:
Deficiencies of intracellular signaling peptides and proteins
423:, exhibiting ocular hyperteliorism, cephalofacial similarity.
151:
An alternative name of the condition, LEOPARD syndrome, is a
606:
Zeisler and Becker first described a syndrome with multiple
239:(protruding lower jaw), or low-set, possibly rotated, ears.
332:
is observed in about 30% of those affected by the syndrome
987:
Tartaglia M, Martinelli S, Stella L, et al. (2006).
253:. Other cardiac abnormalities may be present, including
194:, several centimeters in diameter. Also, some areas of
135:
is fairly common (1:1,000 to 1:2,500 live births), and
679:
James, William; Berger, Timothy; Elston, Dirk (2005).
552:
Other management is routine care as symptoms present:
27:
Rare autosomal dominant multi-system genetic condition
1446:
2290:
2235:
2149:
2018:
1977:
1963:
1945:
1784:
1733:
1724:
1685:
1657:
1648:
1513:
1450:
681:
629:(von Recklinghausen syndrome). In fact, since both
69:
40:
35:
1391:National Library of Medicine MeSH: C05.660.207.525
235:. Abnormalities also include: broad nasal root,
556:For those with endocrine issues (low levels of
36:Noonan syndrome with multiple lentigines (NSML)
2390:intracellular signaling peptides and proteins
1628:
710:Current Opinion in Genetics & Development
476:of the SHP2 protein (the gene product of the
8:
1278:Proceedings of the Royal Society of Medicine
1184:
1182:
1180:
1178:
404:Thirty-seven-year-old patient demonstrating
1974:
1730:
1654:
1635:
1621:
1613:
1447:
1232:"Noonan syndrome with multiple lentigines"
464:In the two predominant mutations of NSML (
356:In 2006, a NSML patient was reported with
304:is not needed for a diagnosis. A clinical
49:
32:
2252:EDARADD Hypohidrotic ectodermal dysplasia
1297:
1104:
1012:
920:
778:
729:
84:Noonan syndrome with multiple lentigines
2435:Neuro-cardio-facial-cutaneous syndromes
671:
367:
496:, following evaluation of the mother.
7:
1883:Neutrophil immunodeficiency syndrome
1766:Albright's hereditary osteodystrophy
1259:10.1001/archderm.1936.01470070112010
1234:. U.S. National Library of Medicine.
1141:American Journal of Medical Genetics
847:10.1001/archpedi.1969.02100030654006
377:Hand of 37-year-old patient showing
2237:Signal transducing adaptor proteins
1821:KRAS Cardiofaciocutaneous syndrome
1712:X-linked intellectual disability 1
1707:Juvenile primary lateral sclerosis
1416:10.1111/j.1399-0004.1995.tb04061.x
993:American Journal of Human Genetics
958:10.1097/01.mph.0000199590.21797.0b
704:Tidyman WE, Rauen KA (June 2009).
102:, multisystem disease caused by a
90:) which is part of a group called
25:
2168:Bannayan–Riley–Ruvalcaba syndrome
186:), or on the surface of the eye (
1756:Progressive osseous heteroplasia
472:) the mutations cause a loss of
428:
412:
397:
385:
370:
2361:PRKCSH Polycystic liver disease
353:that required surgical repairs.
2425:Melanocytic nevi and neoplasms
2347:Wolff–Parkinson–White syndrome
1751:Pseudopseudohypoparathyroidism
1650:GTP-binding protein regulators
564:) drug therapy is recommended.
308:is considered made when, with
174:— Reddish-brown to dark brown
123:Noonan syndrome with multiple
1:
2410:Syndromes affecting the heart
1955:Cardiofaciocutaneous syndrome
1903:Chylomicron retention disease
1058:10.1016/j.febslet.2006.03.088
753:Coppin BD, Temple IK (1997).
338:(involuntary eye movements),
300:The presence of all of these
159:" of the skin, caused by the
110:, non-receptor type 11 gene (
98:pathway syndromes, is a rare
2197:X-linked myotubular myopathy
882:10.1016/0002-9343(76)90764-6
618:(protruding breastbone) and
562:follicle stimulating hormone
108:protein tyrosine phosphatase
2440:Syndromes affecting hearing
1994:X-linked agammaglobulinemia
1838:Charcot–Marie–Tooth disease
1370:10.1056/NEJM196804042781410
1335:10.1056/NEJM196612012752203
759:Journal of Medical Genetics
683:(10th ed.). Saunders.
214:: Generally observed on an
163:that is reminiscent of the
2456:
1697:Marinesco–Sjögren syndrome
1290:10.1177/003591576205501112
946:J. Pediatr. Hematol. Oncol
358:acute myelogenous leukemia
2385:
2305:Neurofibromatosis type II
2139:Pseudohypoaldosteronism 2
1866:Griscelli syndrome type 2
1659:GTPase-activating protein
922:10.1016/j.jvs.2003.11.030
722:10.1016/j.gde.2009.04.001
127:is caused by a different
57:
48:
2173:Lhermitte–Duclos disease
1771:McCune–Albright syndrome
1761:Pseudohypoparathyroidism
1667:Neurofibromatosis type I
627:neurofibromatosis type I
456:NSML is inherited in an
1931:Bardet–Biedl syndrome 3
499:There are 5 identified
2079:Peutz–Jeghers syndrome
2065:Incontinentia pigmenti
2051:Li–Fraumeni syndrome 2
1702:Aarskog–Scott syndrome
1247:Arch Dermatol Syphilol
1106:10.1074/jbc.M513068200
506:responsible for NSML.
461:
143:data exists for NSML.
2183:Proteus-like syndrome
2037:Coffin-Lowry syndrome
455:
259:mitral valve prolapse
2091:Myotonic dystrophy 1
1581:Gorlin's syndrome II
1272:Moynahan EJ (1962).
1153:10.1002/ajmg.a.31156
771:10.1136/jmg.34.7.582
379:interdigital webbing
325:, hyperelastic skin)
323:interdigital webbing
206:Electrocardiographic
1050:2006FEBSL.580.2477H
245:: Narrowing of the
220:bundle branch block
137:neurofibromatosis 1
2221:Metachondromatosis
1917:Joubert syndrome 8
1852:Carpenter syndrome
1687:Guanine nucleotide
1677:Tuberous sclerosis
1514:External resources
1207:"LEOPARD Syndrome"
474:catalytic activity
462:
458:autosomal dominant
330:mental retardation
243:Pulmonary stenosis
216:electrocardiograph
192:café-au-lait spots
147:Signs and symptoms
131:of the same gene.
100:autosomal dominant
2397:
2396:
2231:
2230:
2211:Noonan syndrome 1
2105:Seckel syndrome 1
1941:
1940:
1816:Noonan syndrome 3
1802:Costello syndrome
1720:
1719:
1559:
1558:
835:Am. J. Dis. Child
655:Neurofibromatosis
296:(nerve deafness).
129:missense mutation
81:
80:
30:Medical condition
16:(Redirected from
2447:
2216:LEOPARD syndrome
2119:Oguchi disease 2
2020:Serine/threonine
2008:ZAP70 deficiency
1975:
1731:
1655:
1637:
1630:
1623:
1614:
1550:LEOPARD Syndrome
1448:
1436:
1435:
1399:
1393:
1388:
1382:
1381:
1353:
1347:
1346:
1318:
1312:
1311:
1301:
1269:
1263:
1262:
1242:
1236:
1235:
1228:
1222:
1221:
1219:
1218:
1203:
1197:
1190:LEOPARD Syndrome
1186:
1173:
1172:
1136:
1130:
1129:
1127:
1126:
1117:. Archived from
1108:
1084:
1078:
1077:
1033:
1027:
1026:
1016:
984:
978:
977:
941:
935:
934:
924:
900:
894:
893:
865:
859:
858:
830:
824:
823:
799:
793:
792:
782:
750:
744:
743:
733:
701:
695:
694:
676:
616:pectus carinatum
432:
416:
401:
389:
374:
319:hypopigmentation
249:as it exits the
247:pulmonary artery
202:may be observed.
200:hypopigmentation
76:Medical genetics
53:
33:
21:
18:LEOPARD syndrome
2455:
2454:
2450:
2449:
2448:
2446:
2445:
2444:
2400:
2399:
2398:
2393:
2381:
2286:
2227:
2178:Cowden syndrome
2152:
2145:
2021:
2014:
1979:Tyrosine kinase
1959:
1937:
1780:
1716:
1689:exchange factor
1688:
1681:
1672:Watson syndrome
1644:
1641:
1560:
1555:
1554:
1539:article/1096445
1509:
1508:
1459:
1445:
1440:
1439:
1401:
1400:
1396:
1389:
1385:
1358:N. Engl. J. Med
1355:
1354:
1350:
1323:N. Engl. J. Med
1320:
1319:
1315:
1284:(11): 959–960.
1271:
1270:
1266:
1244:
1243:
1239:
1230:
1229:
1225:
1216:
1214:
1205:
1204:
1200:
1187:
1176:
1138:
1137:
1133:
1124:
1122:
1099:(10): 6785–92.
1086:
1085:
1081:
1044:(10): 2477–82.
1035:
1034:
1030:
986:
985:
981:
943:
942:
938:
902:
901:
897:
867:
866:
862:
832:
831:
827:
801:
800:
796:
752:
751:
747:
703:
702:
698:
691:
678:
677:
673:
668:
660:Noonan syndrome
651:
604:
595:
586:
536:
489:
450:
448:Pathophysiology
443:
433:
424:
417:
408:
406:hyperelasticity
402:
393:
390:
381:
375:
284:Retarded growth
255:aortic stenosis
149:
141:epidemiological
133:Noonan syndrome
31:
28:
23:
22:
15:
12:
11:
5:
2453:
2451:
2443:
2442:
2437:
2432:
2430:Enzyme defects
2427:
2422:
2420:Genodermatoses
2417:
2412:
2402:
2401:
2395:
2394:
2386:
2383:
2382:
2380:
2379:
2378:
2377:
2365:
2364:
2363:
2351:
2350:
2349:
2337:
2336:
2335:
2333:Carney complex
2323:
2322:
2321:
2309:
2308:
2307:
2294:
2292:
2288:
2287:
2285:
2284:
2283:
2282:
2270:
2269:
2268:
2256:
2255:
2254:
2241:
2239:
2233:
2232:
2229:
2228:
2226:
2225:
2224:
2223:
2218:
2213:
2201:
2200:
2199:
2187:
2186:
2185:
2180:
2175:
2170:
2157:
2155:
2147:
2146:
2144:
2143:
2142:
2141:
2123:
2122:
2121:
2109:
2108:
2107:
2095:
2094:
2093:
2083:
2082:
2081:
2069:
2068:
2067:
2055:
2054:
2053:
2041:
2040:
2039:
2026:
2024:
2016:
2015:
2013:
2012:
2011:
2010:
1998:
1997:
1996:
1983:
1981:
1972:
1961:
1960:
1958:
1957:
1951:
1949:
1943:
1942:
1939:
1938:
1936:
1935:
1934:
1933:
1921:
1920:
1919:
1907:
1906:
1905:
1888:
1887:
1886:
1885:
1871:
1870:
1869:
1868:
1856:
1855:
1854:
1842:
1841:
1840:
1826:
1825:
1824:
1823:
1818:
1806:
1805:
1804:
1790:
1788:
1782:
1781:
1779:
1778:
1773:
1768:
1763:
1758:
1753:
1739:
1737:
1728:
1722:
1721:
1718:
1717:
1715:
1714:
1709:
1704:
1699:
1693:
1691:
1683:
1682:
1680:
1679:
1674:
1669:
1663:
1661:
1652:
1646:
1645:
1642:
1640:
1639:
1632:
1625:
1617:
1609:
1608:
1603:
1598:
1588:
1577:
1557:
1556:
1553:
1552:
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1451:Classification
1444:
1443:External links
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1329:(22): 1220–5.
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1005:10.1086/499925
979:
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272:(retention of
270:cryptorchidism
262:
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178:(surface skin
148:
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79:
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1735:Heterotrimeic
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1586:Who Named It?
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1409:
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1398:
1395:
1392:
1387:
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1379:
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1371:
1367:
1364:(14): 780–1.
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999:(2): 279–90.
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909:J. Vasc. Surg
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887:
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841:(6): 652–62.
840:
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817:
814:(2): 98–100.
813:
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612:hypertelorism
609:
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583:
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295:
294:Sensorineural
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256:
252:
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229:hypertelorism
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213:
212:abnormalities
210:
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1215:. Retrieved
1211:the original
1201:
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1144:
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1134:
1123:. Retrieved
1119:the original
1096:
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1031:
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992:
982:
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713:
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680:
674:
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596:
593:Epidemiology
587:
551:
547:
543:forme fruste
542:
540:
537:
528:transversion
498:
490:
477:
463:
440:lentiginosis
363:
299:
276:in body) or
150:
122:
111:
87:
83:
82:
64:low set ears
2415:RASopathies
2153:phosphatase
1970:phosphatase
1545:GeneReviews
1523:MedlinePlus
1410:(2): 85–9.
1404:Clin. Genet
1253:: 109–125.
620:prognathism
558:thyrotropin
237:prognathism
60:prognathism
41:Other names
2404:Categories
2280:Zaspopathy
1947:MAP kinase
1499:DiseasesDB
1217:2014-09-01
1125:2008-01-20
870:Am. J. Med
666:References
608:lentigines
310:lentigines
278:monorchism
268:: usually
233:lentigines
209:conduction
172:Lentigines
161:lentigines
125:lentigines
2388:See also
2266:Cherubism
1786:Monomeric
1726:G protein
1601:Dermnetnz
1595:981603547
1591:DermAtlas
1576:GeneTests
1534:eMedicine
1195:eMedicine
1038:FEBS Lett
584:Prognosis
577:arrythmia
534:Treatment
487:Diagnosis
351:aneurysms
336:Nystagmus
306:diagnosis
302:hallmarks
274:testicles
266:genitalia
264:Abnormal
165:large cat
157:freckling
118:RASopathy
71:Specialty
2151:Tyrosine
1432:31291484
1308:19994192
1169:19570040
1161:16523510
1115:16377799
1074:27676871
1066:16638574
1023:16358218
974:21559684
966:16679933
931:15071461
820:11013475
740:19467855
649:See also
504:variants
344:hyposmia
340:seizures
290:Deafness
196:vitiligo
153:mnemonic
104:mutation
2327:PRKAR1A
2319:CADASIL
2313:Notch 3
2246:EDARADD
2031:RPS6KA3
1493:D044542
1424:7586657
1378:5638719
1343:5921856
1299:1896920
1046:Bibcode
1014:1380235
890:1258892
855:5771505
789:9222968
780:1051000
731:2743116
645:locus.
602:History
501:allelic
188:scleral
176:macules
106:in the
2355:PRKCSH
2341:PRKAG2
2260:SH3BP2
2205:PTPN11
2022:kinase
1966:kinase
1964:Other
1911:ARL13B
1606:DermIS
1528:001473
1482:611554
1479:176876
1476:164760
1473:164757
1470:151100
1430:
1422:
1376:
1341:
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1296:
1167:
1159:
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853:
818:
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738:
728:
687:
522:, and
479:PTPN11
226:Ocular
198:-like
184:buccal
180:lesion
113:PTPN11
2375:XIAP2
2291:Other
2073:STK11
2059:IKBKG
2045:CHEK2
2002:ZAP70
1897:SAR1B
1874:RHO:
1860:RAB27
1846:RAB23
1829:RAB:
1793:RAS:
1776:CGL 2
1747:GNAS1
1428:S2CID
1165:S2CID
1070:S2CID
970:S2CID
635:ICD10
573:ECG's
568:help.
524:Q510P
520:G464A
516:A461T
512:T468M
508:Y279C
470:T468M
466:Y279C
436:Torso
421:Y279C
342:, or
328:Mild
257:, or
251:heart
218:as a
2369:XIAP
2274:LDB3
2191:MTM1
2162:PTEN
2133:WNK1
2127:WNK4
2113:GRK1
2086:DMPK
1925:ARL6
1877:RAC2
1832:RAB7
1810:KRAS
1796:HRAS
1743:cAMP
1565:NSML
1504:7387
1488:MeSH
1465:OMIM
1420:PMID
1374:PMID
1339:PMID
1304:PMID
1157:PMID
1111:PMID
1062:PMID
1019:PMID
962:PMID
927:PMID
886:PMID
851:PMID
816:PMID
785:PMID
736:PMID
685:ISBN
633:and
631:ICD9
468:and
96:MAPK
88:NSML
62:and
2299:NF2
2099:ATR
1988:BTK
1892:ARF
1584:at
1570:NIH
1568:at
1412:doi
1366:doi
1362:278
1331:doi
1327:275
1294:PMC
1286:doi
1255:doi
1193:at
1149:doi
1145:140
1101:doi
1097:281
1054:doi
1042:580
1009:PMC
1001:doi
954:doi
917:doi
878:doi
843:doi
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775:PMC
767:doi
726:PMC
718:doi
643:NF1
639:NF1
494:NF1
92:Ras
2406::
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1574:UW
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86:(
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Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
