Alagille Syndrome in a Vietnamese Cohort: Mutation Analysis and Assessment of Facial Features

Alagille syndrome (ALGS, OMIM #118450) is an autosomal dominant disorder that affects multiple organ systems including the liver, heart, eyes, vertebrae, and face. ALGS is caused by mutations in one of two genes in the Notch Signaling Pathway, JAGGED1 or NOTCH2. In this study, analysis of 21 Vietnam...

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Main Authors: Lin, Henry C., Le Hoang, Phuc, Hutchinson, Anne, Chao, Grace, Gerfen, Jennifer, Loomes, Kathleen M., Krantz, Ian, Kamath, Binita M., Spinner, Nancy B.
Format: Artigo
Sprog:Inglês
Udgivet: 2012
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3331947/
https://ncbi.nlm.nih.gov/pubmed/22488849
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35255
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