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Article

A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth.

American journal of medical genetics. Part A - 1 Dec 2007

Taha Doris, Khider Amina, Cullinane Andrew R, Gissen Paul

Abstract excerpt

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Topics

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Share to Abnormalities, Multiple
Share to Bone Diseases, Metabolic
Share to Fractures, Bone
Share to ARC gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Mutation

Share to Syndrome

Share to Vesicular Transport Proteins

Source

Identifiers

PMID: 17994566
DOI: 10.1002/ajmg.a.32051

Genes

ARC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

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A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth.PMID 17994566Read ↗

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

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Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndromeSemantic proximity Read ↗

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Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.Semantic proximity Read ↗

Expanding the phenotype of SETD5-related disorder and presenting a novel association with bone fragility.Semantic proximity Read ↗

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.Semantic proximity Read ↗

[The complex phenotype of ARC syndrome: A new case].Semantic proximity Read ↗

A Novel VPS33B Mutation in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome.Semantic proximity Read ↗

[Clinical features and VPS33B mutations in a family affected by arthrogryposis, renal dysfunction, and cholestasis syndrome].Semantic proximity Read ↗

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