De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
GRIN1基因的新生突变会导致广泛的双侧多小脑回畸形
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awx358
Fry Andrew E, Fawcett Katherine A, Zelnik Nathanel, Yuan Hongjie, Thompson Belinda A N, Shemer-Meiri Lilach, Cushion Thomas D, Mugalaasi Hood, Sims David, Stoodley Neil, Chung Seo-Kyung, Rees Mark I, Patel Chirag V, Brueton Louise A, Layet Valérie, Giuliano Fabienne, Kerr Michael P, Banne Ehud, Meiner Vardiella, Lerman-Sagie Tally, Helbig Katherine L, Kofman Laura H, Knight Kristin M, Chen Wenjuan, Kannan Varun, Hu Chun, Kusumoto Hirofumi, Zhang Jin, Swanger Sharon A, Shaulsky Gil H, Mirzaa Ghayda M, Muir Alison M, Mefford Heather C, Dobyns William B, Mackenzie Amanda B, Mullins Jonathan G L, Lemke Johannes R, Bahi-Buisson Nadia, Traynelis Stephen F, Iago Heledd F, Pilz Daniela T