Article
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.
Clinical genetics - 1 Aug 2013
Coussa R G, Otto E A, Gee H-Y, Arthurs P, Ren H, Lopez I, Keser V, Fu Q, Faingold R, Khan A, Schwartzentruber J, Majewski J, Hildebrandt F, Koenekoop R K
Abstract excerpt
Autosomal recessive retinitis pigmentosa (arRP) is a clinically and genetically heterogeneous retinal disease that causes blindness. Our purpose was to identify the causal gene, describe the phenotype and delineate the mutation spectrum in a consanguineous Quebec arRP family. We performed Arrayed...
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