De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement
FRMD5基因的新生突变与发育迟缓、智力障碍、共济失调和眼球运动异常有关。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2022.09.005
Lu, Shenzhao; Ma, Mengqi; Mao, Xiao; Bacino, Carlos A; Jankovic, Joseph; Sutton, V Reid; Bartley, James A; Wang, Xueying; Rosenfeld, Jill A; Beleza-Meireles, Ana; Chauhan, Jaynee; Pan, Xueyang; Li, Megan; Liu, Pengfei; Prescott, Katrina; Amin, Sam; Davies, George; Wangler, Michael F; Dai, Yuwei; Bellen, Hugo J