Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome: from molecular genetics to clinical features

ABSTRACT: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare but fatal autosomal recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene. The classical presentation of ARC includes congenital joint contractures, renal tubular dysfunction, and cholestasis. Ad...

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Detalles Bibliográficos
Autores principales: Zhou, Yaoyao, Zhang, Junfeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422138/
https://www.ncbi.nlm.nih.gov/pubmed/25239142
http://dx.doi.org/10.1186/s13052-014-0077-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422138/
https://www.ncbi.nlm.nih.gov/pubmed/25239142
http://dx.doi.org/10.1186/s13052-014-0077-3

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