A Novel Mutation of VPS33B Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations of the VPS33B encoding the vacuolar protein sorting 33B (VPS33B), which is involved in the intracellular protein sorting and vesicular trafficking. We report a rare case of ARC syndrome...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Case Rep Genet
Main Authors: Agakidou, Eleni, Agakidis, Charalampos, Kambouris, Marios, Printza, Nicoleta, Farini, Maria, Vourda, Elina, Gerou, Spyridon, Sarafidis, Kosmas
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7532373/
https://ncbi.nlm.nih.gov/pubmed/33029437
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/8872294
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados