Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel VPS33B Variant

Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel VPS33B Variant

The arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is an autosomal recessive multisystem disease caused by variants in VPS33B or VIPAS39. The classical presentation includes congenital joint contractures, renal tubular dysfunction, cholestasis, and early death. Additional feature...

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Bibliographic Details
Main Authors: Natália Duarte Linhares, Eleonora Druve Tavares Fagundes, Alexandre Rodrigues Ferreira, Thaís Costa Nascentes Queiroz, Luiz Roberto da Silva, Sergio D. J. Pena
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-02-01
Series:Frontiers in Genetics
Subjects:
whole exome sequencing
VPS33B gene
cholestasis
arthrogryposis
renal dysfunction
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.796759/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.796759/full

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