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Article

ARC syndrome with high GGT cholestasis caused by VPS33B mutations.

World journal of gastroenterology - 28 Apr 2014

Wang Jian-She, Zhao Jing, Li Li-Ting

Abstract excerpt

Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome (OMIM 208085) is an autosomal recessive disorder that is caused by mutations in 2 interacting genes VPS33B and VIPAS39. Mutations in VPS33B gene account for most cases of ARC. As low or normal gamma-glutamyl transpeptidase (GGT) activity has been described in all patients with ARC syndrome identified so far, ARC syndrome is a possible diagnosis for...

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Source

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Identifiers

PMID: 24782640
DOI: 10.3748/wjg.v20.i16.4830
PMCID: PMC4000524

Genes

ARC
VIPAS39

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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