Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window.
Léa Guerrini-RousseauJulien Masliah-PlanchonMathilde FilserArnault Tauziède-EspariatNatacha Entz-WerleChristine M MaugardSaskia M J HopmanJacob TorrejonMarion Gauthier-VillarsFatoumata SimagaThomas BlauwblommeKevin BeccariaEtienne RouleauMarina DimariaJacques GrillSamuel AbbouBéatrice ClaretLaurence BrugièresFrançois DozYassine BouchouchaCécile Faure-ConterValerie BonadonaLudovic MansuyEmilie de CarliOlivier IngsterClémentine LegrandAnne PagnierPascaline BerthetDamien BodetSophie JuliaAnne-Isabelle BertozziMarjolaine WilemsClaude-Alain MaurageOlivier DelattreOlivier AyraultChristelle DufourFranck BourdeautPublished in: Neuro-oncology advances (2024)
germline sequencing to patients with SHH-MB, depending on the parents" request.