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[Clinical features and genetic analysis of a child with Progressive familial intrahepatic cholestasis type 8 due to compound heterozygous variants of KIF12 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 12 May 2025

Sun Dayan, Zhang Shixuan, Liao Junmin, Li Shuangshuang, Wang Dingding, Zhang Ya'nan, Gu Yichao, Hua Kaiyun, Huang Jinshi, Zhao Yong

Abstract excerpt

OBJECTIVE: To explore the clinical phenotype and genetic characteristics of a child with Progressive familial intrahepatic cholestasis type 8 (PFIC8). METHODS A child with PFIC diagnosed at Beijing Children's Hospital Affiliated to Capital Medical University in September 2025 was selected as the study subject. Peripheral venous blood samples were collected from the child and her parents. Following extraction of...

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Identifiers

PMID: 41811040
DOI: 10.3760/cma.j.cn511374-20251126-00684

Genes

KIF12

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