Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism
MTOR 突变与发育性脑疾病(包括巨脑畸形、局灶性皮质发育不良和色素镶嵌症)的关联
期刊:Jama Neurology
影响因子:21.3
doi:10.1001/jamaneurol.2016.0363
Mirzaa, Ghayda M; Campbell, Catarina D; Solovieff, Nadia; Goold, Carleton; Jansen, Laura A; Menon, Suchithra; Timms, Andrew E; Conti, Valerio; Biag, Jonathan D; Adams, Carissa; Boyle, Evan August; Collins, Sarah; Ishak, Gisele; Poliachik, Sandra; Girisha, Katta M; Yeung, Kit San; Chung, Brian Hon Yin; Rahikkala, Elisa; Gunter, Sonya A; McDaniel, Sharon S; Macmurdo, Colleen Forsyth; Bernstein, Jonathan A; Martin, Beth; Leary, Rebecca; Mahan, Scott; Liu, Shanming; Weaver, Molly; Doerschner, Michael; Jhangiani, Shalini; Muzny, Donna M; Boerwinkle, Eric; Gibbs, Richard A; Lupski, James R; Shendure, Jay; Saneto, Russell P; Novotny, Edward J; Wilson, Christopher J; Sellers, William R; Morrissey, Michael; Hevner, Robert F; Ojemann, Jeffrey G; Guerrini, Renzo; Murphy, Leon O; Winckler, Wendy; Dobyns, William B