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
Autores principales: Agakidou, Eleni, Agakidis, Charalampos, Kambouris, Marios, Printza, Nicoleta, Farini, Maria, Vourda, Elina, Gerou, Spyridon, Sarafidis, Kosmas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7532373/
https://www.ncbi.nlm.nih.gov/pubmed/33029437
http://dx.doi.org/10.1155/2020/8872294

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7532373/
https://www.ncbi.nlm.nih.gov/pubmed/33029437
http://dx.doi.org/10.1155/2020/8872294

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