Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22
显性X连锁皮质下层状异位症和无脑回畸形综合征(XSCLH/LIS):男性发生突变的证据及Xq22潜在基因位点的定位
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg.34.3.177
des Portes, V; Pinard, J M; Smadja, D; Motte, J; Boespflüg-Tanguy, O; Moutard, M L; Desguerre, I; Billuart, P; Carrie, A; Bienvenu, T; Vinet, M C; Bachner, L; Beldjord, C; Dulac, O; Kahn, A; Ponsot, G; Chelly, J