Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures

Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures

Abstract Background Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal recessive disease caused by pathogenic variants of the gene ABCB4. This study aimed to investigate the ABCB4 genotypic and the clinical phenotypic features of PFIC3 patients. Methods The clinical and mol...

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Bibliographic Details
Main Authors: Rong Chen, Feng-Xia Yang, Yan-Fang Tan, Mei Deng, Hua Li, Yi Xu, Wen-Xian Ouyang, Yuan-Zong Song
Format: Article
Language:English
Published: BMC 2022-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Progress familial intrahepatic cholestasis type 3 (PFIC3)
ABCB4 gene
Novel variants
Online Access:https://doi.org/10.1186/s13023-022-02597-y

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