[EEF1A2]

Haofeng Ning1, Yuqiong Chai, Wanzhen Huang

  • 1Department of Medical Genetics and Antenatal Diagnosis, Luoyang Maternal and Child Health Care Hospital, Luoyang, Henan 471000, China. yuwudou0816@126.com.

概括

一种新的EEF1A2基因变异,c.44A>G (p.H15R),与复杂的神经发育障碍有关. 这一发现扩大了已知的EEF1A2基因突变谱.