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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… Click to show full 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.
Keywords:
renal dysfunction;
vps33b mutation;
dysfunction cholestasis;
novel vps33b;
arthrogryposis renal
Journal Title: Pediatric Dermatology
Year Published: 2017
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Journal Title: Pediatric Dermatology
Year Published: 2017
Link to full text (if available)
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recommendations!