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Papers of the Week


2020 Nov


Pediatr Gastroenterol Hepatol Nutr


23


6

Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China.

Authors

Zhang W, Lin R, Lu Z, Sheng H, Xu Y, Li X, Cheng J, Cai Y, Mao X, Liu L
Pediatr Gastroenterol Hepatol Nutr. 2020 Nov; 23(6):558-566.
PMID: 33215027.

Abstract

Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic autosomal recessive disease caused by mutations in , or . Mutational analysis of these genes is a reliable approach to identify the disorder.