Article
Genotype-phenotype correlation in ocular von Hippel-Lindau (VHL) disease: the effect of missense mutation position on ocular VHL phenotype.
Investigative ophthalmology & visual science - 1 Sept 2010
Mettu Pradeep, Agrón Elvira, Samtani Sonia, Chew Emily Y, Wong Wai T
Abstract excerpt
PURPOSE: von Hippel-Lindau (VHL) disease is a dominantly inherited, multisystemic tumor syndrome caused by mutations in the VHL gene. This study was conducted to establish genotype-phenotype correlations between the positions of disease-causing missense mutations and the ocular phenotypes of VHL disease. METHODS: Participants with clinically defined VHL disease and documented germline missense mutations in the...
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