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

Author:

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

Publisher

Public Library of Science (PLoS)

Subject

Cancer Research,Genetics(clinical),Genetics,Molecular Biology,Ecology, Evolution, Behavior and Systematics

Cited by 30 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Familial retinoblastoma: variations in clinical presentation and management based on paternal versus maternal inheritance;Journal of American Association for Pediatric Ophthalmology and Strabismus;2024-02

2. Decoding Retinoblastoma: Differential Gene Expression;International Journal of Clinical Medicine;2024

3. Non-RB1 germline cancer predisposing variants found in retinoblastoma patients;Genetics in Medicine Open;2024

4. An overview of RB1 transcript alterations detected during retinoblastoma genetic screening;Ophthalmic Genetics;2023-11-06

5. Low Penetrance Retinoblastoma;Journal of Pediatric Ophthalmology & Strabismus;2023-07-26

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