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...

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Detalles Bibliográficos
Publicado en: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: Hindawi 2020
Assuntos:
Case Report
Acceso en liña: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
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