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Rare type I collagen variants in early-onset bicuspid aortic valve disease: Overlap with Ehlers-Danlos syndrome and osteogenesis imperfecta.
Mansoorshahi S, Pensa CT, Carter E, Sabate-Rotes A, Michelena HI, Yetman AT, De Backer J, Mosquera LM, Bissell MM, Andreassi MG, Foffa I, Hui DS, Caffarelli A, Kim YY, Citro R, De Marco M, Tretter JT, McBride KL, Body SC, Raggio C, Milewicz DM, Prakash SK; EBAV Investigators. Mansoorshahi S, et al. HGG Adv. 2026 Jul 9;7(3):100627. doi: 10.1016/j.xhgg.2026.100627. Epub 2026 May 20. HGG Adv. 2026. PMID: 42157492 Free PMC article.
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