Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma

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-phen...

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Enregistré dans:
Détails bibliographiques
Publié dans:JAMA Ophthalmol
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: American Medical Association 2020
Sujets:
Original Investigation
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7303903/
https://ncbi.nlm.nih.gov/pubmed/32556071
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaophthalmol.2020.2100
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