Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Juvenile nephronophthisis 4 is an atosomal recessive disorder characterized by medullary cysts and progressive renal failure.
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Hoefele J et al. (2004) Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene. 
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| 2. |
Mollet G et al. (2005) Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.
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| 3. |
Hoefele J et al. (2005) Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
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| 4. |
Orphanet article Orphanet ID 93592
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| 5. |
OMIM.ORG article Omim 606966
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