Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window
髓母细胞瘤伴ELP1致病变异:一种低外显率综合征,其发病年龄范围有限。
期刊:NeuroOncology Advances
影响因子:4.1
doi:10.1093/noajnl/vdae075
Guerrini-Rousseau, Léa; Masliah-Planchon, Julien; Filser, Mathilde; Tauziède-Espariat, Arnault; Entz-Werle, Natacha; Maugard, Christine M; Hopman, Saskia M J; Torrejon, Jacob; Gauthier-Villars, Marion; Simaga, Fatoumata; Blauwblomme, Thomas; Beccaria, Kevin; Rouleau, Etienne; Dimaria, Marina; Grill, Jacques; Abbou, Samuel; Claret, Béatrice; Brugières, Laurence; Doz, François; Bouchoucha, Yassine; Faure-Conter, Cécile; Bonadona, Valerie; Mansuy, Ludovic; de Carli, Emilie; Ingster, Olivier; Legrand, Clémentine; Pagnier, Anne; Berthet, Pascaline; Bodet, Damien; Julia, Sophie; Bertozzi, Anne-Isabelle; Wilems, Marjolaine; Maurage, Claude-Alain; Delattre, Olivier; Ayrault, Olivier; Dufour, Christelle; Bourdeaut, Franck