Novel Missense CNTNAP2 Variant Identified in Two Consanguineous Pakistani Families With Developmental Delay, Epilepsy, Intellectual Disability, and Aggressive Behavior
在两个巴基斯坦近亲结婚家庭中发现了一种新的CNTNAP2错义变异,这些变异与发育迟缓、癫痫、智力障碍和攻击性行为有关。
期刊:Frontiers in Neurology
影响因子:2.8
doi:10.3389/fneur.2022.918022
Badshah, Noor; Mattison, Kari A; Ahmad, Sohail; Chopra, Pankaj; Johnston, H Richard; Ahmad, Shakoor; Khan, Sher Hayat; Sarwar, Muhammad Tahir; Cutler, David J; Taylor, Micheal; Vadlamani, Gayatri; Zwick, Michael E; Escayg, Andrew