Homozygosity for Waardenburg syndrome.

In a large kindred including many individuals affected with Waardenburg (WS) type 1 (WS1) syndrome, a child affected with a very severe form of WS type 3 was born. This child presented with dystopia canthorum, partial albinism, and very severe upper-limb defects. His parents were first cousins, both...

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Detaylı Bibliyografya
Asıl Yazarlar: Zlotogora, J, Lerer, I, Bar-David, S, Ergaz, Z, Abeliovich, D
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1995
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801439/
https://ncbi.nlm.nih.gov/pubmed/7726174
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