Nephronophthisis type 10 is an autosomal recessive disorder caused by mutations in the SDCCAG8 gene.
Chaki M et al. (2012) Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.[^]
Otto EA et al. (2010) Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.[^]
Billingsley G et al. (2012) Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly.[^]
OMIM.ORG articleOmim 613524 [^]