Article
Genotype-phenotype correlations in hereditary familial retinoblastoma.
Human mutation - 1 Mar 2007
Taylor Melissa, Dehainault Catherine, Desjardins Laurence, Doz François, Levy Christine, Sastre Xavier, Couturier Jérôme, Stoppa-Lyonnet Dominique, Houdayer Claude, Gauthier-Villars Marion
Abstract excerpt
We studied 50 unrelated pedigrees with a family history of retinoblastoma (Rb) (165 carriers of a RB1 mutation) to delineate the spectrum of RB1 germline mutations in familial Rb and to identify genotype-phenotype correlations as well as putative modifiers. Patients were followed at Institut Curie and they were examined by an ophthalmologist, a pediatrician, and a geneticist. All cases of familial Rb were...
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