De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females
X染色体连锁基因CLCN4的新生突变和遗传突变与男性和女性的综合征性智力障碍、行为障碍和癫痫发作有关。
期刊:Molecular Psychiatry
影响因子:10.1
doi:10.1038/mp.2016.135
Palmer, E E; Stuhlmann, T; Weinert, S; Haan, E; Van Esch, H; Holvoet, M; Boyle, J; Leffler, M; Raynaud, M; Moraine, C; van Bokhoven, H; Kleefstra, T; Kahrizi, K; Najmabadi, H; Ropers, H-H; Delgado, M R; Sirsi, D; Golla, S; Sommer, A; Pietryga, M P; Chung, W K; Wynn, J; Rohena, L; Bernardo, E; Hamlin, D; Faux, B M; Grange, D K; Manwaring, L; Tolmie, J; Joss, S; Cobben, J M; Duijkers, F A M; Goehringer, J M; Challman, T D; Hennig, F; Fischer, U; Grimme, A; Suckow, V; Musante, L; Nicholl, J; Shaw, M; Lodh, S P; Niu, Z; Rosenfeld, J A; Stankiewicz, P; Jentsch, T J; Gecz, J; Field, M; Kalscheuer, V M