A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome
TSEN2基因剪接位点突变导致一种新的综合征，其特征为颅面畸形、中枢神经系统畸形和非典型溶血性尿毒综合征。
期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.14105
Canpolat, Nur; Liu, Dingxiao; Atayar, Emine; Saygili, Seha; Kara, Nazli Sila; Westfall, Trudi A; Ding, Qiong; Brown, Bartley J; Braun, Terry A; Slusarski, Diane; Karli Oguz, Kader; Ozluk, Yasemin; Tuysuz, Beyhan; Tastemel Ozturk, Tugba; Sever, Lale; Sezerman, Osman Ugur; Topaloglu, Rezan; Caliskan, Salim; Attanasio, Massimo; Ozaltin, Fatih
