Case Report: A rare case of familial progressive cholestasis type 10 in an adult with heterozygous MYO5B variant

Case Report: A rare case of familial progressive cholestasis type 10 in an adult with heterozygous MYO5B variant

Progressive familial intrahepatic cholestasis (PFIC) is a group of rare autosomal recessive cholestatic liver diseases that typically manifest in infancy or childhood. It is characterized by intrahepatic cholestasis, jaundice, pruritus, and malabsorption, with potential progression to cirrhosis, liv...

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Bibliographic Details
Main Authors: Zhang Huimin, Wang Yuan, Xu Chuanyan, Chen Jing
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-06-01
Series:Frontiers in Gastroenterology
Subjects:
cholestasis
novel mutation
MYO5B
PFIC
BSEP
Online Access:https://www.frontiersin.org/articles/10.3389/fgstr.2025.1435168/full
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