Clinical phenotype 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. 2025 Sep 10;42(9):1132-1140. doi: 10.3760/cma.j.cn511374-20241203-00632. ABSTRACT OBJECTIVE: To explore the clinical manifestation and genotype of a child …