Cerebral hypomyelination associated with biallelic variants of FIG4
FIG4基因双等位基因变异相关的脑髓鞘形成不足
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.23720
Lenk, Guy M; Berry, Ian R; Stutterd, Chloe A; Blyth, Moira; Green, Lydia; Vadlamani, Gayatri; Warren, Daniel; Craven, Ian; Fanjul-Fernandez, Miriam; Rodriguez-Casero, Victoria; Lockhart, Paul J; Vanderver, Adeline; Simons, Cas; Gibb, Susan; Sadedin, Simon; White, Susan M; Christodoulou, John; Skibina, Olga; Ruddle, Jonathan; Tan, Tiong Y; Leventer, Richard J; Livingston, John H; Meisler, Miriam H