Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the RTTN Gene
放射状小脑畸形(小脑畸形)是由RTTN基因的复发性变异引起的。
期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000200221
Gins, Clarisse; Guimiot, Fabien; Drunat, Séverine; Prévost, Clemence; Rosenblatt, Jonathan; Capri, Yline; Letard, Pascaline; Khung-Savatovsky, Suonavy; Mahi Henni, Mohamed Amine; Elalaoui, Siham Chafai; Alison, Marianne; Guilmin Crepon, Sophie; Gressens, Pierre; Verloes, Alain; Basto, Renata; El Ghouzzi, Vincent; Passemard, Sandrine