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1. A Novel VPS33B Mutation in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

Author

Theresa Christensen, Jenna L. Streicher, Leslie Castelo-Soccio, and Amanda T. Moon

Subjects
0301 basic medicine, ARC SYNDROME, Pediatrics, medicine.medical_specialty, Vesicular Transport Proteins, Dermatology, Arthrogryposis–renal dysfunction–cholestasis syndrome, 030207 dermatology & venereal diseases, 03 medical and health sciences, Fatal Outcome, 0302 clinical medicine, medicine, Humans, Renal Insufficiency, Arthrogryposis, Cholestasis, Arc (protein), business.industry, Infant, Newborn, medicine.disease, 030104 developmental biology, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Female, business
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.

Published
2017

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