Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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. 
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| 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.
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| 3. |
OMIM.ORG article Omim 616307
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