Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsHumansKinesinsFemaleCholestasisIntrahepatic
[Clinical phenotype and genetic analysis of a child with Progressive familial intrahepatic cholestasis type 8 due to compound heterozygous variants of KIF12 gene].
Xiaoying Zhou, Jun Zhang, Wenting Zhang
Published: 202510.3760/cma.j.cn511374-20241203-00632
Abstract
OBJECTIVE: To explore the clinical manifestation and genotype of a child with Progressive familial intrahepatic cholestasis 8 (PFIC8) due to variant of KIF12 gene. METHODS: A child diangosed with PFIC8 at Changzhou Children's Hospital in October 2017…
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