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Ischemic stroke as an initial manifestation of Loeys-Dietz syndrome type 3 caused by the recurrent p.Arg287Trp variant in SMAD3: a case report with familial context

BackgroundLoeys-Dietz syndrome type 3 (LDS3) is a rare autosomal dominant connective tissue disorder caused by pathogenic variants in SMAD3. While characteristic features include aortic aneurysm, hypertelorism, and bifid uvula, ischemic stroke as the presenting symptom has been rarely reported.Case...

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Detaylı Bibliyografya
Asıl Yazarlar: Cong-Xin Chen, Yu-yun Zhou, Zhu-quan Hong, Quan-Long Hong
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Frontiers Media S.A. 2026-05-01
Seri Bilgileri:Frontiers in Genetics
Konular:
Online Erişim:https://www.frontiersin.org/articles/10.3389/fgene.2026.1749577/full
Etiketler: Etiketle
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