Senior-Loken syndrome type 8 is an autosomal recessive disorder caused by mutations in the WDR19 gene.
1. |
Halbritter J et al. (2013) Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. |
2. |
Coussa RG et al. (2013) WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. |
3. |
OMIM.ORG article Omim 616307 |