Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities
TM2D3基因的双等位基因变异会导致严重的综合征性神经发育障碍，该障碍与内质网和线粒体异常有关。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2025.05.004
Gabillard-Lefort, Claudie; Martinez, Caroline Silveira; Gueguen, Naïg; Desquiret-Dumas, Valérie; Wery, Méline; Legoff, Louis; Guimier, Anne; Rondeau, Sophie; Barcia, Giulia; Barnerias, Christine; Cogne, Benjamin; Besnard, Thomas; Lorino, Elsa; Douglas, Jessica; Bodamer, Olaf; Vetro, Annalisa; Guerrini, Renzo; Balestrini, Simona; Conti, Valerio; Siri, Laura; Chevrollier, Arnaud; Bris, Céline; Colin, Estelle; Procaccio, Vincent; Prunier-Mirebeau, Delphine; Lenaers, Guy; Khiati, Salim; Nizon, Mathilde; Baris, Olivier R
