Phenotypic findings associated with variation in elastin

Phenotypic findings associated with variation in elastin

Summary: Variation in the elastin gene (ELN) may contribute to connective tissue disease beyond the known disease associations of supravalvar aortic stenosis and cutis laxa. Exome data from MyCode Community Health Initiative participants were analyzed for ELN rare variants (mean allele frequency <...

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Bibliographic Details
Main Authors: Anne Justice, Melissa A. Kelly, Gary Bellus, Joshua D. Green, Raza Zaidi, Taylor Kerrins, Navya Josyula, Teresa R. Luperchio, Beth A. Kozel, Marc S. Williams
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:HGG Advances
Subjects:
elastin
connective tissue
supravalvar aortic stenosis
aortic hypoplasia
arterial dissection
arterial dilation and aneurysm
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247724001283
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