Associated Papers
Phenotypic Discordance among Siblings with Autosomal Recessive Polycystic Kidney Disease: Case Report and Review of the Literature.
Henein M et al.
Nephron, 2024
Differential regulation of MYC expression by PKHD1/Pkhd1 in human and mouse kidneys: phenotypic implications for recessive polycystic kidney disease.
Harafuji N et al.
Frontiers in Cell and Developmental Biology, 2023
38125876 (PubMed )
Supplement: Table1.xlsx › Supp_Table_S1_ARPKD
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
Sharp AM et al.
Journal of Medical Genetics, 2005
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