Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder
CAMSAP1双等位基因变异会导致临床上可识别的神经元迁移障碍。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2022.09.012
Khalaf-Nazzal, Reham; Fasham, James; Inskeep, Katherine A; Blizzard, Lauren E; Leslie, Joseph S; Wakeling, Matthew N; Ubeyratna, Nishanka; Mitani, Tadahiro; Griffith, Jennifer L; Baker, Wisam; Al-Hijawi, Fida'; Keough, Karen C; Gezdirici, Alper; Pena, Loren; Spaeth, Christine G; Turnpenny, Peter D; Walsh, Joseph R; Ray, Randall; Neilson, Amber; Kouranova, Evguenia; Cui, Xiaoxia; Curiel, David T; Pehlivan, Davut; Akdemir, Zeynep Coban; Posey, Jennifer E; Lupski, James R; Dobyns, William B; Stottmann, Rolf W; Crosby, Andrew H; Baple, Emma L