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Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.
Monroe, Glen R; Harakalova, Magdalena; van der Crabben, Saskia N; Majoor-Krakauer, Danielle; Bertoli-Avella, Aida M; Moll, Frans L; Oranen, Björn I; Dooijes, Dennis; Vink, Aryan; Knoers, Nine V; Maugeri, Alessandra; Pals, Gerard; Nijman, Isaac J; van Haaften, Gijs; Baas, Annette F.
Afiliación
  • Monroe GR; Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands.
  • Harakalova M; Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands.
  • van der Crabben SN; Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands.
  • Majoor-Krakauer D; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Bertoli-Avella AM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Moll FL; Department of Vascular Surgery, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands.
  • Oranen BI; Department of Vascular Surgery, Bethesda Hospital, Hoogeveen, The Netherlands.
  • Dooijes D; Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands.
  • Vink A; Department of Pathology, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands.
  • Knoers NV; Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands.
  • Maugeri A; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
  • Pals G; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
  • Nijman IJ; Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands.
  • van Haaften G; Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands.
  • Baas AF; Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands.
Am J Med Genet A ; 167(6): 1196-203, 2015 Jun.
Article en En | MEDLINE | ID: mdl-25845371
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Rotura de la Aorta / Colágeno Tipo V / Síndrome de Ehlers-Danlos / Hemorragia / Mutación Límite: Adult / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Países Bajos
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Rotura de la Aorta / Colágeno Tipo V / Síndrome de Ehlers-Danlos / Hemorragia / Mutación Límite: Adult / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Países Bajos