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

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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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  Data: Rare type I collagen variants in early-onset bicuspid aortic valve disease: Overlap with Ehlers-Danlos syndrome and osteogenesis imperfecta.
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  Data: <searchLink fieldCode="AU" term="%22Mansoorshahi+S%22">Mansoorshahi S</searchLink>; Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Pensa+CT%22">Pensa CT</searchLink>; Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Carter+E%22">Carter E</searchLink>; Hospital for Special Surgery, 535 East 70th Street, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Sabate-Rotes+A%22">Sabate-Rotes A</searchLink>; Department of Pediatric Cardiology, Vall d'Hebron University Hospital, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Michelena+HI%22">Michelena HI</searchLink>; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Yetman+AT%22">Yetman AT</searchLink>; Children's Hospital and Medical Center, University of Nebraska, Omaha, NE, USA.<br /><searchLink fieldCode="AU" term="%22De+Backer+J%22">De Backer J</searchLink>; Center for Medical Genetics, Ghent University, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Mosquera+LM%22">Mosquera LM</searchLink>; Center for Medical Genetics, Ghent University, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Bissell+MM%22">Bissell MM</searchLink>; Department of Biomedical Imaging Science, Leeds Institute of Cardiovascular and Metabolic Medicine, University of Leeds, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22Andreassi+MG%22">Andreassi MG</searchLink>; Consiglio Nazionale delle Richerche (CNR), L'Istituto di Fisiologia Clinica, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Foffa+I%22">Foffa I</searchLink>; Consiglio Nazionale delle Richerche (CNR), L'Istituto di Fisiologia Clinica, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Hui+DS%22">Hui DS</searchLink>; Department of Cardiothoracic Surgery, University of Texas Health Science Center San Antonio, San Antonio, TX, USA.<br /><searchLink fieldCode="AU" term="%22Caffarelli+A%22">Caffarelli A</searchLink>; Hoag Hospital Newport Beach, Newport Beach, CA, USA.<br /><searchLink fieldCode="AU" term="%22Kim+YY%22">Kim YY</searchLink>; Division of Cardiovascular Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Citro+R%22">Citro R</searchLink>; Medicine and Health Science 'V. Tiberio' Department, University of Molise Responsible Research Hospital, Campobasso, Italy.<br /><searchLink fieldCode="AU" term="%22De+Marco+M%22">De Marco M</searchLink>; Department of Medicine, Surgery and Dentistry Schola Medica Salernitana, University of Salerno, Baronissi, Italy.<br /><searchLink fieldCode="AU" term="%22Tretter+JT%22">Tretter JT</searchLink>; Department of Pediatric Cardiology, Cleveland Clinic, Cleveland, OH, USA.<br /><searchLink fieldCode="AU" term="%22McBride+KL%22">McBride KL</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.<br /><searchLink fieldCode="AU" term="%22Body+SC%22">Body SC</searchLink>; Department of Anesthesiology, Boston University School of Medicine, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Raggio+C%22">Raggio C</searchLink>; Hospital for Special Surgery, 535 East 70th Street, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Milewicz+DM%22">Milewicz DM</searchLink>; Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Prakash+SK%22">Prakash SK</searchLink>; Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA. Electronic address: siddharth.k.prakash@uth.tmc.edu.
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