Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss
显性和隐性ATOH1变异会导致不同的神经发育障碍,并伴有听力损失。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2025.12.016
Bertola, Nicole; Blondiaux, Eléonore; Harion, Madeleine; Dorboz, Imen; Passemard, Sandrine; Mercier, Sandra; Conrad, Solène; Cogné, Benjamin; Boyer, Julie; Uyttebroeck, Sophie; Van Schil, Kristof; Wuyts, Wim; Rendtorff, Nanna Dahl; Bertelsen, Mette; Mey, Kristianna; Blanc, Pierre; Champ, Jerome; Boespflug-Tanguy, Odile; Cantagrel, Vincent; Burglen, Lydie; Coolen, Marion