Clinical characteristics and VPS33B mutations in patients with ARC syndrome.

doi:10.1097/mpg.0b013e31817fcb3f

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Article

Clinical characteristics and VPS33B mutations in patients with ARC syndrome.

Journal of pediatric gastroenterology and nutrition - 1 Mar 2009

Jang Joo Young, Kim Kyung Mo, Kim Gu-Hwan, Yu Eunsil, Lee Jin-Joo, Park Young Seo, Yoo Han-Wook

Abstract excerpt

OBJECTIVES: ARC (arthrogryposis, renal dysfunction, and cholestasis) syndrome is a rare, fatal cause of neonatal intrahepatic cholestasis without known treatment modalities and has recently been ascribed to a mutation in the VPS33B gene. We assessed the clinical characteristics and investigated the VPS33B mutations in Korean patients with ARC syndrome. PATIENTS AND METHODS: We reviewed the medical records of 6...

Topics

Abnormalities, Multiple
Arthrogryposis
Biliary Atresia
Cholestasis
Failure to Thrive
Fatal Outcome
Female
Humans
Ichthyosis
Incidence
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infections

Kidney Diseases

Korea

Male

Mutation

Syndrome

Vesicular Transport Proteins

Source

Open in PubMed

Identifiers

PMID: 19274792
DOI: 10.1097/mpg.0b013e31817fcb3f

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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