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

We 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.

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Bibliographic Details
Published in:Pediatric dermatology 2017-07, Vol.34 (4), p.e171-e173
Main Authors: Moon, Amanda T., Christensen, Theresa, Streicher, Jenna L., Castelo‐Soccio, Leslie
Format: Article
Language:English
Subjects:
Arthrogryposis
Arthrogryposis - complications
Arthrogryposis - genetics
Arthrogryposis - therapy
Case reports
Cholestasis
Cholestasis - complications
Cholestasis - genetics
Cholestasis - therapy
Fatal Outcome
Female
Gallbladder diseases
Humans
Infant, Newborn
Kidney diseases
Mutation
Renal function
Renal Insufficiency - complications
Renal Insufficiency - genetics
Renal Insufficiency - therapy
Vesicular Transport Proteins - genetics
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Description
Summary:We 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.
ISSN:0736-8046
1525-1470
DOI:10.1111/pde.13156