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Article

Concurrence of novel mutations causing Gilbert's and Dubin-Johnson syndrome with poor clinical outcomes in a Han Chinese family.

Journal of human genetics - 1 Jan 2023

Zhou Tai-Cheng, Li Xiao, Li Hui, Liu Feng-Wei, Zhang Si-Hang, Fan Jing-Hua, Yang Wen-Xiu, Yang Ya-Li, Zhang Liang, Wei Jia

Abstract excerpt

Dual-hereditary jaundice (Dubin-Johnson syndrome (DJS) and Gilbert's syndrome (GS)) is a rare clinical entity resulting from defects of the ATP binding cassette subfamily C member 2 (ABCC2) and UDP glucuronosyltransferase family 1 member A1 (UGT1A1) genes with autosomal recessive inheritance. In this study, we aimed to investigate the mutation profiles and characterize the phenotypes in a Han Chinese family with...

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Identifiers

PMID: 36274106
DOI: 10.1038/s10038-022-01086-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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