Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations

Benign recurrent intrahepatic cholestasis (BRIC), a rare cause of cholestasis, is characterized by recurrent episodes of cholestasis without permanent liver damage. BRIC type 2 (BRIC2) is an autosomal recessive disorder caused by ABCB11 mutations. A 6-year-old girl had recurrent episodes of jaundice...

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Bibliographische Detailangaben
Veröffentlicht in:Pediatr Gastroenterol Hepatol Nutr
Hauptverfasser: Sohn, Min Ji, Woo, Min Hyung, Seong, Moon-Woo, Park, Sung Sup, Kang, Gyeong Hoon, Moon, Jin Soo, Ko, Jae Sung
Format: Artigo
Sprache:Inglês
Veröffentlicht: The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2019
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6416387/
https://ncbi.nlm.nih.gov/pubmed/30899697
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5223/pghn.2019.22.2.201
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