De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities
GRIA4基因的新生突变会导致智力障碍,伴或不伴癫痫发作和步态异常。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2017.11.004.
Sonja Martin ,Adam Chamberlin ,Deepali N Shinde ,Maja Hempel ,Tim M Strom ,Allison Schreiber ,Jessika Johannsen ,Lilian Bomme Ousager ,Martin J Larsen ,Lars Kjaersgaard Hansen ,Ali Fatemi ,Julie S Cohen ,Johannes Lemke ,Kristina P Sørensen ,Katherine L Helbig ,Davor Lessel ,Rami Abou Jamra