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AB136. Arthrogryposis, renal dysfunction, cholestasis (ARC) syndrome
BACKGROUND: ARC (arthrogryposis, renal dysfunction, cholestasis) is a clinical syndrome with multisystem disorder, the major presentations are arthrogryposis, renal tubular dysfunction and cholestasis. It is a rare autosomal recessive syndrome which is caused by mutations in VPS33B gene on chromosom...
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| Pubblicato in: | Ann Transl Med |
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| Autori principali: | , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
AME Publishing Company
2015
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4563448/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB136 |
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