A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1

Retinoblastoma (Rb), the most common pediatric intraocular neoplasm, results from inactivation of both alleles of the RB1 tumor suppressor gene. The second allele is most commonly lost, as demonstrated by loss of heterozygosity studies. RB1 germline carriers usually develop bilateral tumors, but som...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:PLoS Genet
Prif Awduron: Eloy, Philippine, Dehainault, Catherine, Sefta, Meriem, Aerts, Isabelle, Doz, François, Cassoux, Nathalie, Lumbroso le Rouic, Livia, Stoppa-Lyonnet, Dominique, Radvanyi, François, Millot, Gaël A., Gauthier-Villars, Marion, Houdayer, Claude
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2016
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4771840/
https://ncbi.nlm.nih.gov/pubmed/26925970
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1005888
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