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Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.
Van Damme, Tim; Colige, Alain; Syx, Delfien; Giunta, Cecilia; Lindert, Uschi; Rohrbach, Marianne; Aryani, Omid; Alanay, Yasemin; Simsek-Kiper, Pelin Özlem; Kroes, Hester Y; Devriendt, Koen; Thiry, Marc; Symoens, Sofie; De Paepe, Anne; Malfait, Fransiska.
Afiliación
  • Van Damme T; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Colige A; Laboratory of Connective Tissues Biology, Tour de Pathologie, GIGA-Cancer, University of Liège, Liège, Belgium.
  • Syx D; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Giunta C; Division of Metabolism, Connective Tissue Unit, University Children's Hospital and Children's Research Centre, Zurich, Switzerland.
  • Lindert U; Division of Metabolism, Connective Tissue Unit, University Children's Hospital and Children's Research Centre, Zurich, Switzerland.
  • Rohrbach M; Division of Metabolism, Connective Tissue Unit, University Children's Hospital and Children's Research Centre, Zurich, Switzerland.
  • Aryani O; Department of Medical Genetics, Special Medical Center, Tehran, Iran.
  • Alanay Y; Pediatric Genetics Unit, Department of Pediatrics, Acibadem University School of Medicine, Istanbul, Turkey.
  • Simsek-Kiper PÖ; Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
  • Kroes HY; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Devriendt K; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.
  • Thiry M; 9Laboratory of Cell and Tissue Biology, GIGA-Neurosciences, University of Liège, Liège, Belgium.
  • Symoens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • De Paepe A; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Malfait F; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Genet Med ; 18(9): 882-91, 2016 09.
Article en En | MEDLINE | ID: mdl-26765342
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Ehlers-Danlos / Proteínas ADAMTS Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Bélgica
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Ehlers-Danlos / Proteínas ADAMTS Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Bélgica