Der Typ 10 der Nephronophthise ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen SDCCAG8 hervorgerufen wird.
1. |
Chaki M et al. (2012) Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. |
2. |
Otto EA et al. (2010) Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. |
3. |
Billingsley G et al. (2012) Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. |
4. |
OMIM.ORG article Omim 613524 |