Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly
在四个患有小脑回畸形的家族中,TMX2基因(编码蛋白质二硫键异构酶)存在复发性纯合致病突变。
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmedgenet-2019-106409
Ghosh, Shereen Georges; Wang, Lu; Breuss, Martin W; Green, Joshua D; Stanley, Valentina; Yang, Xiaoxu; Ross, Danica; Traynor, Bryan J; Alhashem, Amal M; Azam, Matloob; Selim, Laila; Bastaki, Laila; Elbastawisy, Hanan I; Temtamy, Samia; Zaki, Maha; Gleeson, Joseph G