Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Nephronophthisis type 13 is an autosomal recessive disorder caused by mutations in the WDR19 gene.
| 1. |
Bredrup C et al. (2011) Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. 
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| 2. |
Halbritter J et al. (2013) Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
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| 3. |
OMIM.ORG article Omim 614377
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