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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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| Publicado no: | Ital J Pediatr |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4422138/ https://ncbi.nlm.nih.gov/pubmed/25239142 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-014-0077-3 |
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