Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Nephronophthisis type 7 is an autosomal recessive disorder caused by mutations in the GLIS2 gene.
| 1. |
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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| 2. |
Attanasio M et al. (2007) Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.
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| 3. |
OMIM.ORG article Omim 611498
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