Case report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair

por Wang, Qingming, Cheng, Shuangxi, Fu, Youqing, Yuan, Haiming
Publicado 2022

Concurrent pathogenic variants in SLC6A1/NOTCH1/PRIMPOL genes in a Chinese patient with myoclonic-atonic epilepsy, mild aortic valve stenosis and high myopia

por Yuan, Haiming, Wang, Qingming, Li, Yufeng, Cheng, Shuangxi, Liu, Jianxin, Liu, Yanhui
Publicado 2020