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A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystemic disease that is associated with the liver, kidney, skin, and central nervous and musculoskeletal systems. ARC occurs as a result of mutations in the VPS33B (Vacuolar protein sorting 33 homolog B)...
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| Publié dans: | Pediatr Gastroenterol Hepatol Nutr |
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| Auteurs principaux: | , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition
2019
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6856508/ https://ncbi.nlm.nih.gov/pubmed/31777725 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5223/pghn.2019.22.6.581 |
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