Nephronophthisis type 7 is an autosomal recessive disorder caused by mutations in the GLIS2 gene.
Halbritter J et al. (2013) Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.[^]
Attanasio M et al. (2007) Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.[^]
OMIM.ORG articleOmim 611498 [^]