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

• Үндсэн зохиолчид: Hao Zhu (Зохиогч), Shengnan Wang (Зохиогч), Li Li (Зохиогч), Wenqian Geng (Зохиогч), Xiaoqiang Wan (Зохиогч), Rui Hua (Зохиогч), Dong Wang (Зохиогч), Pujun Gao (Зохиогч)
• Формат: Ном
• Хэвлэсэн: Frontiers Media S.A., 2022-10-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: 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...