A Novel VPS33B Mutation in a Patient with Arthrogryposis‐Renal Dysfunction‐Cholestasis Syndrome
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DOI: 10.1111/pde.13156
Abstract: 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. read more here.
Keywords: renal dysfunction; vps33b mutation; dysfunction cholestasis; novel vps33b ... See more keywords