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Article

Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.

American journal of medical genetics. Part A - 1 May 2012

Lin Henry C, Le Hoang Phuc, Hutchinson Anne, Chao Grace, Gerfen Jennifer, Loomes Kathleen M, Krantz Ian, Kamath Binita M, Spinner Nancy B

Abstract excerpt

Alagille syndrome (ALGS, OMIM #118450) is an autosomal dominant disorder that affects multiple organ systems including the liver, heart, eyes, vertebrae, and face. ALGS is caused by mutations in one of two genes in the Notch Signaling Pathway, Jagged1 (JAG1) or NOTCH2. In this study, analysis of 21 Vietnamese ALGS individuals led to the identification of 19 different mutations (18 JAG1 and 1 NOTCH2), 17 of which...

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Source

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Identifiers

PMID: 22488849
DOI: 10.1002/ajmg.a.35255
PMCID: PMC3331947

Genes

JAG1
NOTCH2

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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