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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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Bibliografiske detaljer
Udgivet i:Case Rep Genet
Main Authors: Agakidou, Eleni, Agakidis, Charalampos, Kambouris, Marios, Printza, Nicoleta, Farini, Maria, Vourda, Elina, Gerou, Spyridon, Sarafidis, Kosmas
Format: Artigo
Sprog:Inglês
Udgivet: Hindawi 2020
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Online adgang: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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