Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate
KDM6A 单倍体不足与严重的精神运动障碍、全身生长受限、癫痫和腭裂有关
期刊:Human Genetics
影响因子:3.8
doi:10.1007/s00439-013-1263-x
Amelia M Lindgren, Tatiana Hoyos, Michael E Talkowski, Carrie Hanscom, Ian Blumenthal, Colby Chiang, Carl Ernst, Shahrin Pereira, Zehra Ordulu, Carol Clericuzio, Joanne M Drautz, Jill A Rosenfeld, Lisa G Shaffer, Lea Velsher, Tania Pynn, Joris Vermeesch, David J Harris, James F Gusella, Eric C Liao,
