A Novel VPS33B Mutation in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome.
Amanda T MoonTheresa ChristensenJenna L StreicherLeslie A Castelo-SoccioPublished in: Pediatric dermatology (2017)
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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