Cornelia de Lange syndrome in diverse populations.

L, Dowsett; AR, Porras; P, Kruszka; B, Davis; T, Hu; E, Honey; E, Badoe; MK, Thong; E, Leon; KM, Girisha; A, Shukla; SS, Nayak; V, Shotelersuk; A, Megarbane; S, Phadke; ND, Sirisena; VHW, Dissanayake; CR, Ferreira; MS, Kisling; P, Tanpaiboon; A, Uwineza; L, Mutesa; C, Tekendo-Ngongang; A, Wonkam; K, Fieggen; LC, Batista; D, Moretti-Ferreira; RE, Stevenson; EJ, Prijoles; D, Everman; K, Clarkson; J, Worthington; V, Kimonis; F, Hisama; C, Crowe; P, Wong; K, Johnson; RD, Clark; L, Bird; D, Masser-Frye; M, McDonald; P, Willems; E, Roeder; S, Saitta; K, Anyane-Yeoba; L, Demmer; N, Hamajima; Z, Stark; G, Gillies; L, Hudgins; U, Dave; S, Shalev; V, Siu; A, Ades; H, Dubbs; S, Raible; M, Kaur; E, Salzano; L, Jackson; M, Deardorff; A, Kline; M, Summar; M, Muenke; MG, Linguraru; ID, Krantz

doi:10.1002/ajmg.a.61033

Public

Cornelia de Lange syndrome in diverse populations.

Published in American journal of medical genetics. Part A • Jan 6, 2019

Authors:

Dowsett L

Porras AR

Kruszka P

Abstract

Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted nares, lon...

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Subject

Cornelia De Lange Syndrome

Nipbl

Cdls

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