A novel PKHD1 missense variant disrupting splicing in a fetus with Caroli disease

Gene 2026

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Authors: Hui Huang, Chen Cheng, Peiwen Chen, Fang Yang, Shengbao Pan, Feng Xie, Sheng Zhao, Xinlin Chen

DOI: 10.1016/j.gene.2026.150340

Cited by: 1

References: 48

Fields of Study & Subjects

Genetic and Kidney Cyst Diseases Genetic Syndromes and Imprinting Skin and Cellular Biology Research

References 48