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.

Source: Pediatric Dermatology - May 23, 2017 Category: Dermatology Authors: Amanda T. Moon, Theresa Christensen, Jenna L. Streicher, Leslie Castelo ‐Soccio Tags: Case Report Source Type: research