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Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome

Mendelian DisorderAutoimmune DiseaseNovel Pathogenic Tgfbr1Genetic DisorderInherited Metabolic DiseaseGenetic EpidemiologyLoeys-dietz SyndromePathologyVascular BiologyDisease Gene IdentificationMedicineSmad3 Variants