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Article

Sexual dimorphism in SMAD3 pathogenic variant-harbouring individuals.

Journal of medical genetics - 26 Feb 2025

Richer Julie, Velchev Joe Davis, Goobie Sharan, Boswell-Patterson Christie A, van de Laar Ingrid M B H, Verhagen Judith M A, Wessels Marja W, Roos-Hesselink Jolien W, Luyckx Ilse, Al-Amodi Hussein, Chu Michael W A, Laberge Anne-Marie, Sadikovic Bekim, Balci Tugce, Verstraeten Aline, Loeys Bart

Abstract excerpt

BACKGROUND: Individuals harbouring SMAD3 pathogenic variants are at risk for aneurysms/dissections throughout the arterial tree. Based on prior reports of sex differences in thoracic aortic aneurysm/dissection, we investigated the sexual dimorphism for vascular events in SMAD3-variant-harbouring patients. METHODS: We analysed two large pedigrees comprising 84 individuals segregating pathogenic missense variants...

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Share to Aortic Aneurysm, Thoracic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Predisposition to Disease

Share to Mutation, Missense

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Source

Identifiers

PMID: 39746778
DOI: 10.1136/jmg-2024-110219

Genes

SMAD3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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