A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome

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dc.contributor.authorCanpolat, Nur
dc.contributor.authorLiu, Dingxiao
dc.contributor.authorAtayar, Emine
dc.contributor.authorSaygili, Seha
dc.contributor.authorKara, Nazli Sila
dc.contributor.authorWestfall, Trudi A.
dc.contributor.authorDing, Qiong
dc.contributor.authorBrown, Bartley J.
dc.contributor.authorBraun, Terry A.
dc.contributor.authorSlusarski, Diane
dc.contributor.authorOguz, Kader Karli
dc.contributor.authorOzluk, Yasemin
dc.contributor.authorTuysuz, Beyhan
dc.contributor.authorOzturk, Tugba Tastemel
dc.contributor.authorSever, Lale
dc.contributor.authorSezerman, Osman Ugur
dc.contributor.authorTopaloglu, Rezan
dc.contributor.authorCaliskan, Salim
dc.contributor.authorAttanasio, Massimo
dc.contributor.authorOzaltin, Fatih
dc.date.accessioned2025-10-16T15:17:57Z
dc.date.issued2022
dc.identifier.doi10.1111/cge.14105
dc.identifier.otherWOS:000739907100001
dc.identifier.urihttps://openaccess.acibadem.edu.tr/handle/11443/7046
dc.publisherWILEY
dc.sourceCLINICAL GENETICS
dc.subjectatypical hemolytic uremic syndrome
dc.subjectcranio\\-facial malformation
dc.subjectnovel syndrome
dc.subjecttRNA splicing endonuclease
dc.subjectTSEN2
dc.titleA splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome
dc.typeArticle

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