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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Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Cong-Xin Chen, Yu-yun Zhou, Zhu-quan Hong, Quan-Long Hong
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Frontiers Media S.A. 2026-05-01
Σειρά:	Frontiers in Genetics
Θέματα:	arterial dissection genotype-phenotype correlation ischemic stroke Loeys-Dietz syndrome type 3 Smad3
Διαθέσιμο Online:	https://www.frontiersin.org/articles/10.3389/fgene.2026.1749577/full
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