Publications:

Osteosarcoma without prior retinoblastoma related to RB1 low-penetrance germline pathogenic variants: A novel type of RB1-related hereditary predisposition syndrome?

Molecular Genetics & Genomic Medicine

Imbert-Bouteille, Marion M; Gauthier-Villars, Marion M; Leroux, Dominique D; Meunier, Isabelle I; Aerts, Isabelle I; Lumbroso-Le Rouic, Livia L; Lejeune, Sophie S; Delnatte, Capucine C; Abadie, Caroline C; Pujol, Pascal P; Houdayer, Claude C; Corsini, Carole C

Publication Date: 2019-12

Variant appearance in text: RB1: 2520+6T>C

PubMed Link: 31568710

Variant Present in the following documents:

• Main text
• MGG3-7-e913.pdf

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