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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6036836/
https://www.ncbi.nlm.nih.gov/pubmed/30046498
http://dx.doi.org/10.1155/2018/1369413

Ejemplares similares

Ejemplares similares