A Novel VPS33B Mutation in a Patient with Arthrogryposis‐Renal Dysfunction‐Cholestasis Syndrome

descriptionPublicationkeyboard_double_arrow_right Article 23 May 2017 English Publisher:WileyJournal:Pediatric Dermatology, volume 34 (issn: 0736-8046, eissn: 1525-1470,

Authors: Amanda T. Moon; Theresa Christensen; Jenna L. Streicher; Leslie Castelo‐Soccio;

doi: 10.1111/pde.13156

pmid: 28544027

A Novel VPS33B Mutation in a Patient with Arthrogryposis‐Renal Dysfunction‐Cholestasis Syndrome

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Abstract

AbstractWe report a case of arthrogryposis‐renal dysfunction‐cholestasis (ARC) syndrome in a girl with a novel VPS33B mutation. To our knowledge, this is the first reported case of ARC syndrome in the United States.

Related Organizations

University of Pennsylvania
United States
Drexel University
United States
Children's Hospital of Philadelphia
United States

Keywords

Arthrogryposis, Cholestasis, Fatal Outcome, Mutation, Infant, Newborn, Vesicular Transport Proteins, Humans, Female, Renal Insufficiency

26 Research products, page 1 of 3

A Novel Mutation of VPS33B Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype.
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