Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly
CASP2基因的双等位基因截断变异是导致无脑回畸形的神经发育障碍的根本原因。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-023-01461-2
Uctepe, Eyyup; Vona, Barbara; Esen, Fatma Nisa; Sonmez, F Mujgan; Smol, Thomas; Tümer, Sait; Mancılar, Hanifenur; Geylan Durgun, Dilan Ece; Boute, Odile; Moghbeli, Meysam; Ghayoor Karimiani, Ehsan; Hashemi, Narges; Bakhshoodeh, Behnoosh; Kim, Hyung Goo; Maroofian, Reza; Yesilyurt, Ahmet