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A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome.
Canpolat N, Liu D, Atayar E, Saygili S, Kara NS, Westfall TA, Ding Q, Brown BJ, Braun TA, Slusarski D, Karli Oguz K, Ozluk Y, Tuysuz B, Tastemel Ozturk T, Sever L, Sezerman OU, Topaloglu R, Caliskan S, Attanasio M, Ozaltin F. Canpolat N, et al. Among authors: liu d. Clin Genet. 2022 Mar;101(3):346-358. doi: 10.1111/cge.14105. Epub 2022 Jan 7. Clin Genet. 2022. PMID: 34964109 Free PMC article.
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