A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome

Alagille syndrome (MIM 118450) is an autosomal dominant disorder characterized by paucity of intrahepatic bile ducts, chronic cholestasis, pulmonary stenosis, butterfly-like vertebrae, posterior embryotoxon, and dysmorphic facial features. Most cases are caused by JAG1 gene mutations. We report the...

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Detalhes bibliográficos
Publicado no:Case Rep Genet
Main Authors: Reyes-de la Rosa, Alejandra del Pilar, Varela-Fascinetto, Gustavo, García-Delgado, Constanza, Vázquez-Martínez, Edgar Ricardo, Valencia-Mayoral, Pedro, Cerbón, Marco, Morán-Barroso, Verónica Fabiola
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6036836/
https://ncbi.nlm.nih.gov/pubmed/30046498
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2018/1369413
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