De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features. - Harel T; Spicher C; Scheer E; Buchan JG; Cech J; Folland C; Frey T; Holtz AM; Innes AM; Keren B; Macken WL; Marcelis C; et al. (Brain : a journal of neurology, 2024)