The autosomal recessive disease, nephronophthisis 3, is characterized by medullary renal cysts. In contrast to other forms of nephronophthisis, the onset of symptoms is significantly later.
Omran H et al. (2002) Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene.[^]
Olbrich H et al. (2003) Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.[^]
Omran H et al. (2000) Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree.[^]
Komatsuda A et al. (2006) Analysis of the NPHP genes in two Japanese patients with suspected sporadic juvenile or adolescent nephronophthisis.[^]
OMIM.ORG articleOmim 604387 [^]