Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.
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| Title: | Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections. |
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| Authors: | Meester JA; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Vandeweyer G; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Pintelon I; Department of Cell Biology and Histology, University of Antwerp, Antwerp, Belgium., Lammens M; Department of Pathology, University Hospital Antwerp, University of Antwerp, Antwerp, Belgium., Van Hoorick L; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., De Belder S; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Waitzman K; Department of Pediatric Cardiology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Young L; Department of Pediatric Cardiology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Markham LW; Divisions of Pediatric and Adult Cardiology, Vanderbilt University, Nashville, Tennessee, USA., Vogt J; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK., Richer J; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Beauchesne LM; Division of Cardiology, University of Ottawa Heart Institute, Ottawa, Ontario, Canada., Unger S; Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland., Superti-Furga A; Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland., Prsa M; Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland., Dhillon R; The Heart Unit, Birmingham Children's Hospital, Birmingham, UK., Reyniers E; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Dietz HC; Howard Hughes Medical Institute, Baltimore, Maryland, USA.; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Wuyts W; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Mortier G; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Verstraeten A; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Van Laer L; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Loeys BL; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. |
| Source: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2017 Apr; Vol. 19 (4), pp. 386-395. Date of Electronic Publication: 2016 Sep 15. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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