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. |
2. |
Attanasio M et al. (2007) Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. |
3. |
OMIM.ORG article Omim 611498 |