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ABCC2 mutation spectrum and phenotypic diversity in pediatric Dubin-Johnson syndrome: a chinese cohort analysis.

Clinics and research in hepatology and gastroenterology - 1 Jun 2026

Wang Meifen, Yuan Wei, Li Juan, Bi Zhongrui, Qiao Chuanfu, Jiang Hongchao, Li Jiwei

Abstract excerpt

BACKGROUND: To investigate the clinical characteristics, mutation spectrum of the ABCC2 gene, and genotype-phenotype correlations in Chinese pediatric patients with Dubin-Johnson syndrome (DJS). METHODS: Six children diagnosed with DJS at Kunming Children's Hospital from April 2018 to August 2021 were enrolled. Clinical, biochemical, and imaging data were collected. Peripheral blood samples were obtained from the...

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Identifiers

PMID: 42140583
DOI: 10.1016/j.clinre.2026.102845

Genes

ABCC2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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