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Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.
Meester, Josephina A N; Vandeweyer, Geert; Pintelon, Isabel; Lammens, Martin; Van Hoorick, Lana; De Belder, Simon; Waitzman, Kathryn; Young, Luciana; Markham, Larry W; Vogt, Julie; Richer, Julie; Beauchesne, Luc M; Unger, Sheila; Superti-Furga, Andrea; Prsa, Milan; Dhillon, Rami; Reyniers, Edwin; Dietz, Harry C; Wuyts, Wim; Mortier, Geert; Verstraeten, Aline; Van Laer, Lut; Loeys, Bart L.
Afiliación
  • 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.
  • Wuyts W; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • 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.
Genet Med ; 19(4): 386-395, 2017 04.
Article en En | MEDLINE | ID: mdl-27632686
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Aneurisma de la Aorta Torácica / Biglicano / Disección Aórtica / Mutación Límite: Female / Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Bélgica
Texto completo
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Imprimir
XML
PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Aneurisma de la Aorta Torácica / Biglicano / Disección Aórtica / Mutación Límite: Female / Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Bélgica