Moon Amanda T, Christensen Theresa, Streicher Jenna L, Castelo-Soccio Leslie
Department of Dermatology, College of Medicine, Drexel University, Philadelphia, Pennsylvania.
Division of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Pediatr Dermatol. 2017 Jul;34(4):e171-e173. doi: 10.1111/pde.13156. Epub 2017 May 23.
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.
我们报告了一名患有新型VPS33B突变的女孩的关节弯曲-肾功能不全-胆汁淤积（ARC）综合征病例。据我们所知，这是美国首例报告的ARC综合征病例。
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