A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome
Nur Canpolat, Dingxiao Liu, Emine Atayar, Seha Saygili, Nazli Sila Kara, Trudi A. Westfall, Qiong Ding, Bartley J. Brown, Terry A. Braun, Diane Slusarski, Kader Karli Oguz, Yasemin Ozluk, Beyhan Tuysuz, Tugba Tastemel Ozturk, Lale Sever, Osman Ugur Sezerman, Rezan Topaloglu, Salim Caliskan, Massimo Attanasio, Fatih Ozaltin
Research output: Contribution to journal › Article › peer-review
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