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Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.
Cannaerts, Elyssa; Kempers, Marlies; Maugeri, Alessandra; Marcelis, Carlo; Gardeitchik, Thatjana; Richer, Julie; Micha, Dimitra; Beauchesne, Luc; Timmermans, Janneke; Vermeersch, Paul; Meyten, Nathalie; Chénier, Sébastien; van de Beek, Gerarda; Peeters, Nils; Alaerts, Maaike; Schepers, Dorien; Van Laer, Lut; Verstraeten, Aline; Loeys, Bart.
Affiliation
  • Cannaerts E; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Kempers M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Maugeri A; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
  • Marcelis C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Richer J; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Micha D; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
  • Beauchesne L; Division of Cardiology, University of Ottawa Heart Institute, Ottawa, Ontario, Canada.
  • Timmermans J; Department of Cardiology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Vermeersch P; Department of Cardiology, ZNA Middelheim, Antwerp, Belgium.
  • Meyten N; Department of Cardiology, ZNA Middelheim, Antwerp, Belgium.
  • Chénier S; CIUSSS de l'Estrie, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Quebec, Canada.
  • van de Beek G; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Peeters N; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Alaerts M; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Schepers D; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Van Laer L; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Verstraeten A; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Loeys B; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
J Med Genet ; 56(4): 220-227, 2019 04.
Article in En | MEDLINE | ID: mdl-29967133
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arteries / Genetic Variation / Smad2 Protein / Aneurysm / Aortic Dissection Type of study: Prognostic_studies Limits: Adult / Aged / Child / Female / Humans / Male / Middle aged Language: En Journal: J Med Genet Year: 2019 Type: Article Affiliation country: Belgium
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arteries / Genetic Variation / Smad2 Protein / Aneurysm / Aortic Dissection Type of study: Prognostic_studies Limits: Adult / Aged / Child / Female / Humans / Male / Middle aged Language: En Journal: J Med Genet Year: 2019 Type: Article Affiliation country: Belgium