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Article

[Clinical features and genetic analysis of a child with Progressive familial intrahepatic cholestasis type 5 due to variant of NR1H4 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2026

Dong Mengjun, Xia Zhiyi, Li Suli, Zhao Yanbing, Zhou Fang

Abstract excerpt

OBJECTIVE: To explore the clinical, genetic, treatment and prognostic characteristics of progressive familial intrahepatic cholestasis type 5 (PFIC5). METHODS: A retrospective analysis was carried out on the clinical data of a child diagnosed with PFIC5 at the Children's Hospital Affiliated to Zhengzhou University in June 2022. Peripheral blood samples from the child and his parents were collected, and trio-whole...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42091197
DOI: 10.3760/cma.j.cn511374-20250907-00531

Genes

NR1H4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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