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A Novel VPS 33B Mutation in a Patient with Arthrogryposis‐Renal Dysfunction‐Cholestasis Syndrome
Author(s) -
Moon Amanda T.,
Christensen Theresa,
Streicher Jenna L.,
CasteloSoccio Leslie
Publication year - 2017
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13156
Subject(s) - arthrogryposis , medicine , mutation , cholestasis , arc (geometry) , girl , neonatal cholestasis , congenital myasthenic syndrome , pediatrics , endocrinology , surgery , genetics , biology , receptor , gene , biliary atresia , geometry , mathematics , transplantation , liver transplantation , acetylcholine receptor
Abstract We report a case of arthrogryposis‐renal dysfunction‐cholestasis ( ARC ) syndrome in a girl with a novel VPS 33B mutation. To our knowledge, this is the first reported case of ARC syndrome in the United States.