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

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...

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Detalles Bibliográficos
Autores principales: Zhu, Hao, Wang, Shengnan, Li, Li, Geng, Wenqian, Wan, Xiaoqiang, Hua, Rui, Wang, Dong, Gao, Pujun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9622764/
https://www.ncbi.nlm.nih.gov/pubmed/36330364
http://dx.doi.org/10.3389/fped.2022.1012825

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9622764/
https://www.ncbi.nlm.nih.gov/pubmed/36330364
http://dx.doi.org/10.3389/fped.2022.1012825

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