De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
WDR37基因的新生变异与癫痫、眼裂缺损、畸形、发育迟缓、智力障碍和小脑发育不全有关
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.06.014
Kanca, Oguz; Andrews, Jonathan C; Lee, Pei-Tseng; Patel, Chirag; Braddock, Stephen R; Slavotinek, Anne M; Cohen, Julie S; Gubbels, Cynthia S; Aldinger, Kimberly A; Williams, Judy; Indaram, Maanasa; Fatemi, Ali; Yu, Timothy W; Agrawal, Pankaj B; Vezina, Gilbert; Simons, Cas; Crawford, Joanna; Lau, C Christopher; Chung, Wendy K; Markello, Thomas C; Dobyns, William B; Adams, David R; Gahl, William A; Wangler, Michael F; Yamamoto, Shinya; Bellen, Hugo J; Malicdan, May Christine V