De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies
MAPK8IP3基因的新生突变导致智力障碍并伴有不同程度的脑部异常
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.12.008
Platzer, Konrad; Sticht, Heinrich; Edwards, Stacey L; Allen, William; Angione, Kaitlin M; Bonati, Maria T; Brasington, Campbell; Cho, Megan T; Demmer, Laurie A; Falik-Zaccai, Tzipora; Gamble, Candace N; Hellenbroich, Yorck; Iascone, Maria; Kok, Fernando; Mahida, Sonal; Mandel, Hanna; Marquardt, Thorsten; McWalter, Kirsty; Panis, Bianca; Pepler, Alexander; Pinz, Hailey; Ramos, Luiza; Shinde, Deepali N; Smith-Hicks, Constance; Stegmann, Alexander P A; Stöbe, Petra; Stumpel, Constance T R M; Wilson, Carolyn; Lemke, Johannes R; Di Donato, Nataliya; Miller, Kenneth G; Jamra, Rami