Congenital immobility and stiffness related to biallelic ATAD1 variants
与双等位基因ATAD1变异相关的先天性活动受限和僵硬
期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000000520
Bunod, Roxane; Doummar, Diane; Whalen, Sandra; Keren, Boris; Chantot-Bastaraud, Sandra; Maincent, Kim; Villy, Marie-Charlotte; Mayer, Michèle; Rodriguez, Diana; Burglen, Lydie; Léger, Pierre-Louis; Kieffer, François; Martin, Isabelle; Héron, Delphine; Buratti, Julien; Isapof, Arnaud; Afenjar, Alexandra; Billette de Villemeur, Thierry; Mignot, Cyril