Article

Differential contribution of elastin and fibrillin-1 to the cardiovascular phenotype of a double heterozygous Marfan and Williams-Beuren syndrome mouse model

2025-07-04

Abstract excerpt

<h4>ABSTRACT</h4> Marfan syndrome (MFS) and Williams-Beuren syndrome (WBS) are two genetic diseases of connective tissue caused respectively by mutations in the fibrillin-1 gene (FBN1) and hemizygous loss of the elastin gene (ELN) from an allelic chromosomic deletion. Their respective vascular manifestations are opposed, resulting in thoracic aortic aneurysm in MFS and supravalvular aortic stenosis in WBS. To inv...

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Literature Corpus work: af827aea-19e4-5b1b-b529-75a4ec76160f
DOI: 10.1101/2025.07.01.662517

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