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
(Oxford University Press, 2024-05-15)
Background: ELP1 pathogenic variants (PV) have been recently identified as the most frequent variants predisposing to Sonic Hedgehog (SHH) medulloblastomas (MB); however, guidelines are still lacking for genetic counseling ...