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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Ward CJ et al. (2002) The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
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Bergmann C et al. (2003) Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
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None (2002) Another cystic mystery solved.
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Bosch BM et al. (2003) Autosomal recessive polycystic kidney disease: improvement of renal function.
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Wang S et al. (2004) The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area.
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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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Adeva M et al. (2006) Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).
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Torra R et al. (1996) Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.
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Zerres K et al. (1998) Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology.
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OMIM.ORG article Omim 263200
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Wikipedia article Wikipedia EN (Congenital_hepatic_fibrosis)
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