Case Report: A rare case of young adult progressive familial intrahepatic cholestasis-type 3 with a novel heterozygous pathogenic variant of ABCB4

• Main Authors: Hao Zhu (Author), Shengnan Wang (Author), Li Li (Author), Wenqian Geng (Author), Xiaoqiang Wan (Author), Rui Hua (Author), Dong Wang (Author), Pujun Gao (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Progressive familial intrahepatic cholestasis type 3 (PFIC-3) is a rare autosomal recessive disorder with poor prognosis. It is caused by pathogenic variants of the ATP binding cassette subfamily B member 4 (ABCB4) gene and usually progresses from chronic cholestasis with or without jaundice to port...