Medulloblastomas with ELP1 Pathogenic Variants: A Weakly Penetrant Syndrome with a Restricted Spectrum in a Limited Age Window.
Lea Guerrini-Rousseau,Julien Masliah-Planchon,Mathilde Filser,Arnault Tauziede-Espariat,Natacha Entz-Werle,Christine M. Maugard,Saskia M. J. Hopman,Jacob Torrejon,Marion Gauthier-Villars,Fatoumata Simaga,Thomas Blauwblomme,Kevin Beccaria,Etienne Rouleau, Marina Dimaria,Jacques Grill,Samuel Abbou,Beatrice Claret,Laurence Brugieres,Francois Doz,Yassine Bouchoucha,Cecile Faure-Conter,Valerie Bonadona,Ludovic Mansuy,Emilie de Carli,Olivier Ingster,Clementine Legrand,Anne Pagnier,Pascaline Berthet,Damien Bodet,Sophie Julia,Anne-Isabelle Bertozzi, Marjolaine Wilems,Claude-Alain Maurage,Olivier Delattre,Olivier Ayrault,Christelle Dufour,Franck Bourdeaut NEURO-ONCOLOGY ADVANCES（2024）
Key words
cancer predisposition syndrome,ELP1,medulloblastoma,pathogenic variant
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