Article
Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma.
JAMA ophthalmology - 1 Aug 2020
Salviat Flore, Gauthier-Villars Marion, Carton Matthieu, Cassoux Nathalie, Lumbroso-Le Rouic Livia, Dehainault Catherine, Levy Christine, Golmard Lisa, Aerts Isabelle, Doz François, Bonnet-Serrano Fidéline, Hayek Stéphanie, Savignoni Alexia, Stoppa-Lyonnet Dominique, Houdayer Claude
Abstract excerpt
Importance: Retinoblastoma (RB) is the most common pediatric intraocular neoplasm. RB is a complex model in which atypical pathogenic variants, modifier genes, imprinting, and mosaicism are known to be associated with the phenotype. In-depth understanding of RB therefore requires large genotype-phenotype studies. Objective: To assess the association between genotype and phenotype in patients with RB. Design,...
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