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Article

Alagille syndrome: an overview.

Clinics and research in hepatology and gastroenterology - 1 Jun 2012

Vajro Pietro, Ferrante Lorenza, Paolella Giulia

Abstract excerpt

Alagille syndrome is an embryofoetopathy, due to mutations in the gene JAG1. It is autosomic dominant with variable expressivity, or sporadic. Neonatal cholestasis is a main feature, due to the paucity of intrahepatic bile ducts. It can rarely develop into cirrhosis, but be responsible for a disabling pruritus and xanthomas. The other features are a peculiar facies, cardiac abnormalities, butterfly vertebrae, and...

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Source

Identifiers

PMID: 22521120
DOI: 10.1016/j.clinre.2012.03.019

Genes

JAG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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