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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| Asıl Yazarlar: | , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
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Frontiers Media S.A.
2026-05-01
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| Seri Bilgileri: | Frontiers in Genetics |
| Konular: | |
| Online Erişim: | https://www.frontiersin.org/articles/10.3389/fgene.2026.1749577/full |
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