Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.

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Title: Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.
Authors: Luyckx I; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Kumar AA; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Reyniers E; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Dekeyser E; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Vanderstraeten K; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Vandeweyer G; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Wünnemann F; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Saint-Justine Research Centre, Université de Montréal, Montreal, QC, Canada., Preuss C; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Saint-Justine Research Centre, Université de Montréal, Montreal, QC, Canada.; The Jackson Laboratory, Bar Harbor, ME, USA., Mazzella JM; Centre de réféfence des maladies vasculaires rares, Hôpital Européen Georges Pompidou, APHP, Université Paris Descartes, France, Paris, France., Goudot G; Centre de réféfence des maladies vasculaires rares, Hôpital Européen Georges Pompidou, APHP, Université Paris Descartes, France, Paris, France., Messas E; Centre de réféfence des maladies vasculaires rares, Hôpital Européen Georges Pompidou, APHP, Université Paris Descartes, France, Paris, France., Albuisson J; Centre de réféfence des maladies vasculaires rares, Hôpital Européen Georges Pompidou, APHP, Université Paris Descartes, France, Paris, France., Jeunemaitre X; Centre de réféfence des maladies vasculaires rares, Hôpital Européen Georges Pompidou, APHP, Université Paris Descartes, France, Paris, France., Eriksson P; Cardiovascular Medicine Unit, Center for Molecular Medicine, Department of Medicine Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden., Mohamed SA; Department of Cardiac and Thoracic Vascular Surgery, University Clinic of Schleswig-Holstein, Luebeck, Germany., Kempers M; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Salemink S; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Duijnhouwer A; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Andelfinger G; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Saint-Justine Research Centre, Université de Montréal, Montreal, QC, Canada., Dietz HC; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Howard Hughes Medical Institute, Baltimore, MD, USA.; Division of Pediatric Cardiology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Verstraeten A; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Van Laer L; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Loeys BL; Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. bart.loeys@uantwerpen.be.; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands. bart.loeys@uantwerpen.be.
Corporate Authors: MIBAVA Leducq Consortium
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2019 Jul; Vol. 27 (7), pp. 1033-1043. Date of Electronic Publication: 2019 Feb 28.
Publication Type: Clinical Trial; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1476-5438
DOI:10.1038/s41431-019-0364-y