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

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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Main Authors: Alejandra del Pilar Reyes-de la Rosa, Gustavo Varela-Fascinetto, Constanza García-Delgado, Edgar Ricardo Vázquez-Martínez, Pedro Valencia-Mayoral, Marco Cerbón, Verónica Fabiola Morán-Barroso
Format: Article
Language:English
Published: Wiley 2018-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2018/1369413
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http://dx.doi.org/10.1155/2018/1369413

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