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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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Dades bibliogràfiques
Publicat a:Ann Transl Med
Autors principals: Oanh, Bui Kim, Hoa, Nguyen Pham Anh
Format: Artigo
Idioma:Inglês
Publicat: AME Publishing Company 2015
Matèries:
Accés en línia: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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