Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro
DPYSL5基因中的错义变异与神经发育障碍和脑畸形相关，会导致体外神经元成熟受损。
期刊:Molecular Psychiatry
影响因子:10.1
doi:10.1038/s41380-025-03364-8
Desprez, Florence; Remize, Solène; François-Moutal, Liberty; Ung, Dévina C; Dangoumau, Audrey; Marouillat, Sylviane; Kennedy, Joanna; Low, Karen J; Kumps, Camille; Unger, Sheila; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Poirsier, Céline; Mirzaa, Ghayda M; Aldinger, Kimberly A; Lesca, Gaetan; Ruault, Valentin; Finnila, Candice R; Kelley, Whitley V; Latner, Donald R; Guptha, Sushma N; Tuttle, Annabelle; Glass, Ian; Chung, Wendy K; Hayek, Jennifer Cassady; Boute, Odile; Moutal, Aubin; Jeanne, Médéric; Laumonnier, Frédéric
