A Novel VPS 33B Mutation in a Patient with Arthrogryposis‐Renal Dysfunction‐Cholestasis Syndrome

A Novel VPS 33B 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 VPS 33B mutation. To our knowledge, this is the first reported case of ARC syndrome in the United States.

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Veröffentlicht in:Pediatric dermatology 2017-07, Vol.34 (4)
Hauptverfasser: Moon, Amanda T., Christensen, Theresa, Streicher, Jenna L., Castelo‐Soccio, Leslie
Format: Artikel
Sprache:eng
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Zusammenfassung:We report a case of arthrogryposis‐renal dysfunction‐cholestasis ( ARC ) syndrome in a girl with a novel VPS 33B 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