Cornelia de Lange syndrome in diverse populations.

Dowsett, Leah; R Porras, Antonio; Kruszka, Paul; Davis, Brandon; Hu, Tommy; Honey, Engela; Badoe, Eben; Thong, Meow-Keong; Leon, Eyby; M Girisha, Katta; Shukla, Anju; S Nayak, Shalini; Shotelersuk, Vorasuk; Megarbane, Andre; Phadke, Shubha; D Sirisena, Nirmala; H W Dissanayake, Vajira; R Ferreira, Carlos; S Kisling, Monisha; Tanpaiboon, Pranoot; Uwineza, Annette; Mutesa, Leon; Tekendo-Ngongang, Cedrik; Wonkam, Ambroise; Fieggen, Karen; Cassimiro Batista, Leticia; Moretti-Ferreira, Danilo; E Stevenson, Roger; J Prijoles, Eloise; Everman, David; Clarkson, Kate; Worthington, Jessica; Kimonis, Virginia; Hisama, Fuki; Crowe, Carol; Wong, Paul; Johnson, Kisha; D Clark, Robin; Bird, Lynne; Masser-Frye, Diane; McDonald, Marie; Willems, Patrick; Roeder, Elizabeth; Saitta, Sulgana; Anyane-Yeoba, Kwame; Demmer, Laurie; Hamajima, Naoki; Stark, Zornitza; Gillies, Greta; Hudgins, Louanne

doi:10.1002/ajmg.a.61033

Public

Cornelia de Lange syndrome in diverse populations.

Shared by NobleBlocks on Feb 1, 2019 • 12:00 AM UTC

Authors:

Leah Dowsett

Antonio R Porras

Paul Kruszka

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...

Subject

CdLS

Cornelia de Lange syndrome

NIPBL

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