Rare type I collagen variants in early-onset bicuspid aortic valve disease: Overlap with Ehlers-Danlos syndrome and osteogenesis imperfecta.

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Bibliographic Details
Title: Rare type I collagen variants in early-onset bicuspid aortic valve disease: Overlap with Ehlers-Danlos syndrome and osteogenesis imperfecta.
Authors: Mansoorshahi S; Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA., Pensa CT; Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA., Carter E; Hospital for Special Surgery, 535 East 70th Street, New York, NY, USA., Sabate-Rotes A; Department of Pediatric Cardiology, Vall d'Hebron University Hospital, Barcelona, Spain., Michelena HI; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA., Yetman AT; Children's Hospital and Medical Center, University of Nebraska, Omaha, NE, USA., De Backer J; Center for Medical Genetics, Ghent University, Ghent, Belgium., Mosquera LM; Center for Medical Genetics, Ghent University, Ghent, Belgium., Bissell MM; Department of Biomedical Imaging Science, Leeds Institute of Cardiovascular and Metabolic Medicine, University of Leeds, Leeds, UK., Andreassi MG; Consiglio Nazionale delle Richerche (CNR), L'Istituto di Fisiologia Clinica, Pisa, Italy., Foffa I; Consiglio Nazionale delle Richerche (CNR), L'Istituto di Fisiologia Clinica, Pisa, Italy., Hui DS; Department of Cardiothoracic Surgery, University of Texas Health Science Center San Antonio, San Antonio, TX, USA., Caffarelli A; Hoag Hospital Newport Beach, Newport Beach, CA, USA., Kim YY; Division of Cardiovascular Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Citro R; Medicine and Health Science 'V. Tiberio' Department, University of Molise Responsible Research Hospital, Campobasso, Italy., De Marco M; Department of Medicine, Surgery and Dentistry Schola Medica Salernitana, University of Salerno, Baronissi, Italy., Tretter JT; Department of Pediatric Cardiology, Cleveland Clinic, Cleveland, OH, USA., McBride KL; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Body SC; Department of Anesthesiology, Boston University School of Medicine, Boston, MA, USA., Raggio C; Hospital for Special Surgery, 535 East 70th Street, New York, NY, USA., Milewicz DM; Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA., Prakash SK; Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA. Electronic address: siddharth.k.prakash@uth.tmc.edu.
Corporate Authors: EBAV Investigators
Source: HGG advances [HGG Adv] 2026 Jul 09; Vol. 7 (3), pp. 100627. Date of Electronic Publication: 2026 May 20.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE
Database: MEDLINE Ultimate
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