Article
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
The Journal of clinical investigation - 1 Jun 2010
Ebermann Inga, Phillips Jennifer B, Liebau Max C, Koenekoop Robert K, Schermer Bernhard, Lopez Irma, Schäfer Ellen, Roux Anne-Francoise, Dafinger Claudia, Bernd Antje, Zrenner Eberhart, Claustres Mireille, Blanco Bernardo, Nürnberg Gudrun, Nürnberg Peter, Ruland Rebecca, Westerfield Monte, Benzing Thomas, Bolz Hanno J
Abstract excerpt
Usher syndrome is a genetically heterogeneous recessive disease characterized by hearing loss and retinitis pigmentosa (RP). It frequently presents with unexplained, often intrafamilial, variability of the visual phenotype. Although 9 genes have been linked with Usher syndrome, many patients do not have mutations in any of these genes, suggesting that there are still unidentified genes involved in the syndrome....
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