Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window

Abstract 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 in this new syndrome. Methods We retrospectively reviewed clinical an...

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Veröffentlicht in:	Neuro-oncology advances 2024-01, Vol.6 (1), p.vdae075
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Clinical Investigations
Online-Zugang:	Volltext
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