Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly
AKT3基因突变与多种发育障碍相关,包括极度巨脑畸形。
期刊:Brain
影响因子:10.6
doi:10.1093/brain/awx203
Diana Alcantara ,Andrew E Timms ,Karen Gripp ,Laura Baker ,Kaylee Park ,Sarah Collins ,Chi Cheng ,Fiona Stewart ,Sarju G Mehta ,Anand Saggar ,László Sztriha ,Melinda Zombor ,Oana Caluseriu ,Ronit Mesterman ,Margot I Van Allen ,Adeline Jacquinet ,Sofia Ygberg ,Jonathan A Bernstein ,Aaron M Wenger ,Harendra Guturu ,Gill Bejerano ,Natalia Gomez-Ospina ,Anna Lehman ,Enrico Alfei ,Chiara Pantaleoni ,Valerio Conti ,Renzo Guerrini ,Ute Moog ,John M Graham Jr ,Robert Hevner ,William B Dobyns ,Mark O'Driscoll ,Ghayda M Mirzaa