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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:JAMA Ophthalmol
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Medical Association 2020
Pynciau:
Original Investigation
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg