Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
NCDN基因的单等位基因和双等位基因变异会导致神经发育迟缓、智力障碍和癫痫。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2022.02.007
Fatima, Ambrin; Hoeber, Jan; Schuster, Jens; Koshimizu, Eriko; Maya-Gonzalez, Carolina; Keren, Boris; Mignot, Cyril; Akram, Talia; Ali, Zafar; Miyatake, Satoko; Tanigawa, Junpei; Koike, Takayoshi; Kato, Mitsuhiro; Murakami, Yoshiko; Abdullah, Uzma; Ali, Muhammad Akhtar; Fadoul, Rein; Laan, Loora; Castillejo-López, Casimiro; Liik, Maarika; Jin, Zhe; Birnir, Bryndis; Matsumoto, Naomichi; Baig, Shahid M; Klar, Joakim; Dahl, Niklas
