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

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

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

Afiliação

Moon AT; Department of Dermatology, College of Medicine, Drexel University, Philadelphia, Pennsylvania.
Christensen T; Division of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Streicher JL; Division of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Castelo-Soccio L; Division of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Pediatr Dermatol ; 34(4): e171-e173, 2017 Jul.

Article em En | MEDLINE | ID: mdl-28544027

RESUMO

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.

Assuntos

Artrogripose/genética; Colestase/genética; Insuficiência Renal/genética; Proteínas de Transporte Vesicular/genética; Artrogripose/complicações; Artrogripose/terapia; Colestase/complicações; Colestase/terapia; Evolução Fatal; Feminino; Humanos; Recém-Nascido; Mutação; Insuficiência Renal/complicações; Insuficiência Renal/terapia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrogripose / Colestase / Proteínas de Transporte Vesicular / Insuficiência Renal Limite: Female / Humans / Newborn Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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