Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain
大脑中主要 CDKL5 转录本特有的晚期截断突变个体表现出广泛的表型严重程度。
期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.62940
Keehan, Laura; Haviland, Isabel; Gofin, Yoel; Swanson, Lindsay C; El Achkar, Christelle Moufawad; Schreiber, John; VanNoy, Grace E; O'Heir, Emily; O'Donnell-Luria, Anne; Lewis, Richard Alan; Magoulas, Pilar; Tran, Alyssa; Azamian, Mahshid S; Chao, Hsiao-Tuan; Pham, Lisa; Samaco, Rodney C; Elsea, Sarah; Thorpe, Erin; Kesari, Akanchha; Perry, Denise; Lee, Brendan; Lalani, Seema R; Rosenfeld, Jill A; Olson, Heather E; Burrage, Lindsay C