Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Nephronophthisis type 10 is an autosomal recessive disorder caused by mutations in the SDCCAG8 gene.
| 1. |
Chaki M et al. (2012) Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 
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| 2. |
Otto EA et al. (2010) Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
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| 3. |
Billingsley G et al. (2012) Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly.
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| 4. |
OMIM.ORG article Omim 613524
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