De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities
ZBTB47基因的新生错义变异与发育迟缓、肌张力低下、癫痫、步态异常和各种运动异常有关。
期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.63399
Ward, Scott K; Wadley, Alexandrea; Tsai, Chun-Hui Anne; Benke, Paul J; Emrick, Lisa; Fisher, Kristen; Houck, Kimberly M; Dai, Hongzheng; Guillen Sacoto, Maria J; Craigen, William; Glaser, Kimberly; Murdock, David R; Rohena, Luis; Diderich, Karin E M; Bruggenwirth, Hennie T; Lee, Brendan; Bacino, Carlos; Burrage, Lindsay C; Rosenfeld, Jill A
