Ontology highlight
ABSTRACT:
SUBMITTER: Reyes-de la Rosa ADP
PROVIDER: S-EPMC6036836 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Reyes-de la Rosa Alejandra Del Pilar ADP Varela-Fascinetto Gustavo G García-Delgado Constanza C Vázquez-Martínez Edgar Ricardo ER Valencia-Mayoral Pedro P Cerbón Marco M Morán-Barroso Verónica Fabiola VF
Case reports in genetics 20180625
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 <i>JAG1</i> gene mutations. We report the case of a 2-year-old Mexican mestizo patient with Alagille syndrome, having exhibited jaundice and cholestatic syndrome as of three weeks of age. Sequencing analysis of the <i>JAG1</i> gene rev ...[more]