Arthrogryposis, renal dysfunction, and cholestasis syndrome caused by VIPAR mutation.

Ackermann, Oanez; Gonzales, Emmanuel; Keller, Marion; Guettier, Catherine; Gissen, Paul; Jacquemin, Emmanuel

Ackermann, Oanez; Gonzales, Emmanuel; Keller, Marion; Guettier, Catherine; Gissen, Paul; Jacquemin, Emmanuel.

Affiliation

Ackermann O; *Pediatric Hepatology and Pediatric Liver Transplantation Unit, National Reference Centre for Biliary Atresia Pathology Unit, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Université Paris Sud 11, Le Kremlin-Bicêtre, France Laboratory for Molecular Cell Biology, Great Ormond Street Hospital, London, UK.

J Pediatr Gastroenterol Nutr ; 58(3): e29-32, 2014 Mar.

Article in En | MEDLINE | ID: mdl-23636179

Subject(s)

Arthrogryposis/genetics; Carrier Proteins/genetics; Cholestasis/genetics; Mutation; Renal Insufficiency/genetics; Female; Humans; Infant; Syndrome; Vesicular Transport Proteins

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Carrier Proteins / Cholestasis / Renal Insufficiency / Mutation Limits: Female / Humans / Infant Language: En Journal: J Pediatr Gastroenterol Nutr Year: 2014 Document type: Article Affiliation country: United kingdom Country of publication: United States

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