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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Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: Hindawi 2018
Subjects:
Case Report
Online Access: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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