Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Senior-Loken syndrome 8

Senior-Loken syndrome type 8 is an autosomal recessive disorder caused by mutations in the WDR19 gene.

Systematic

Senior-Loken syndrome
Senior-Loken syndrome 1
Senior-Loken syndrome 3
Senior-Loken syndrome 4
Senior-Loken syndrome 5
Senior-Loken syndrome 6
Senior-Loken syndrome 7
Senior-Loken syndrome 8
WDR19
Senior-Loken syndrome 9

References:

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 [^]
Update: April 29, 2019