Clinical and molecular genetic characteristics of pediatric PFIC3 patients: three novel variants and prognosis for parental liver transplantation

Abstract Progressive Familial Intrahepatic Cholestasis Type 3 (PFIC3) is a rare inherited liver disease caused by a mutation in the ABCB4 gene, leading to dysfunction of multidrug resistance protein 3 (MDR3). The earlier the onset of PFIC3 in children is, the more severe the prognosis. The diagnosis...

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Detalhes bibliográficos

Principais autores:	Jiqiang Hu, Chenyu Yang, Bingqian Tan, Qiang Xiong, Ying Le, Jianyang Hu, Haoming Wang, Xiaoke Dai, Mingman Zhang
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2025-04-01
coleção:	Orphanet Journal of Rare Diseases
Assuntos:	Progressive familial intrahepatic cholestasis type 3 ABCB4 MDR3 Cholestasis
Acesso em linha:	https://doi.org/10.1186/s13023-025-03670-y
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