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...

Descripción completa

Detalles Bibliográficos
Autores principales: Linhares, Natália Duarte, Fagundes, Eleonora Druve Tavares, Ferreira, Alexandre Rodrigues, Queiroz, Thaís Costa Nascentes, da Silva, Luiz Roberto, Pena, Sergio D. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8913578/
https://www.ncbi.nlm.nih.gov/pubmed/35281816
http://dx.doi.org/10.3389/fgene.2022.796759

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8913578/
https://www.ncbi.nlm.nih.gov/pubmed/35281816
http://dx.doi.org/10.3389/fgene.2022.796759

Ejemplares similares