Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
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Omran H et al. (2002) Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene. 
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| 2. |
Olbrich H et al. (2003) Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
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| 3. |
Omran H et al. (2000) Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree.
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| 4. |
Komatsuda A et al. (2006) Analysis of the NPHP genes in two Japanese patients with suspected sporadic juvenile or adolescent nephronophthisis.
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| 5. |
OMIM.ORG article Omim 604387
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