TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions
TCEAL1 功能丧失会导致 X 连锁显性遗传的神经发育综合征，并驱动 Xq22.2 缺失中的神经系统疾病特征。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2022.10.007
Hijazi, Hadia; Reis, Linda M; Pehlivan, Davut; Bernstein, Jonathan A; Muriello, Michael; Syverson, Erin; Bonner, Devon; Estiar, Mehrdad A; Gan-Or, Ziv; Rouleau, Guy A; Lyulcheva, Ekaterina; Greenhalgh, Lynn; Tessarech, Marine; Colin, Estelle; Guichet, Agnès; Bonneau, Dominique; van Jaarsveld, R H; Lachmeijer, A M A; Ruaud, Lyse; Levy, Jonathan; Tabet, Anne-Claude; Ploski, Rafal; Rydzanicz, Małgorzata; Kępczyński, Łukasz; Połatyńska, Katarzyna; Li, Yidan; Fatih, Jawid M; Marafi, Dana; Rosenfeld, Jill A; Coban-Akdemir, Zeynep; Bi, Weimin; Gibbs, Richard A; Hobson, Grace M; Hunter, Jill V; Carvalho, Claudia M B; Posey, Jennifer E; Semina, Elena V; Lupski, James R
