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Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology - 1 Aug 2006

Sanseverino M T V, de Souza C F M, Gissen P, Sordi A O, Magalhães J A, Schüler-Faccini L

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 16758438
DOI: 10.1002/uog.2822

Genes

ARC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene.PMID 16758438Read ↗

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Clinical characteristics and VPS33B mutations in patients with ARC syndrome.Semantic proximity Read ↗

Novel missense mutation in VPS33B is associated with isolated low gamma‐glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndromeSemantic proximity Read ↗

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