Polycystic kidney disease 4 is characterized by polycystic kidneys and autosomal recessive inheritance. It is caused by mutations of the PKHD1 gene.
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Zhang MZ et al. (2004) PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells. ![]() |
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Bergmann C et al. (2005) Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). ![]() |
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OMIM.ORG article Omim 263200![]() |
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Wikipedia article Wikipedia EN (Congenital_hepatic_fibrosis)![]() |