Nephronophthisis type 6 is an autosomal recessive disorder caused by mutations in the CEP290 gene.
1. |
Sayer JA et al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. |
2. |
Valente EM et al. (2006) Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. |
3. |
OMIM.ORG article Omim 610142 |