Juvenile nephronophthisis 4 is an atosomal recessive disorder characterized by medullary cysts and progressive renal failure.
Hoefele J et al. (2004) Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene.[^]
Mollet G et al. (2005) Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.[^]
Hoefele J et al. (2005) Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.[^]
Orphanet articleOrphanet ID 93592 [^]
OMIM.ORG articleOmim 606966 [^]