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Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.
Colman, Marlies; Castori, Marco; Micale, Lucia; Ritelli, Marco; Colombi, Marina; Ghali, Neeti; Van Dijk, Fleur; Marsili, Luisa; Weeks, Adrienne; Vandersteen, Anthony; Rideout, Andrea; Legrand, Anne; Frank, Michael; Mirault, Tristan; Ferraris, Alessandro; Di Giosaffatte, Niccolò; Grammatico, Paola; Grunert, Juergen; Frank, Charissa; Symoens, Sofie; Syx, Delfien; Malfait, Fransiska.
Afiliação
  • Colman M; Centre for Medical Genetics, Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University and Ghent University Hospital, Belgium.
  • Castori M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
  • Micale L; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
  • Ritelli M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Italy.
  • Colombi M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Italy.
  • Ghali N; Ehlers-Danlos Syndrome National Diagnostic Service London, North West Thames Regional Genetics Service, London North West Healthcare University NHS Trust, Harrow, Middlesex, UK.
  • Van Dijk F; National Ehlers Danlos Syndrome Diagnostic Service, Northwick Park and St. Mark's Hospitals, Harrow, UK.
  • Marsili L; Clinique de Génétique, CHU Lille, France and Utrecht University, University Medical Center Utrecht, Department of Genetics, Utrecht, The Netherlands.
  • Weeks A; Neurosurgery, Dalhousie University, Halifax, Nova Scotia, Canada.
  • Vandersteen A; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada.
  • Rideout A; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada.
  • Legrand A; Département de Génétique, Centre National de Référence pour les Maladies Vasculaires Rares, Centre de Référence Européen VASCERN MSA, Hôpital Européen Georges Pompidou, AP-HP, Paris, France.
  • Frank M; Département de Génétique, Centre National de Référence pour les Maladies Vasculaires Rares, Centre de Référence Européen VASCERN MSA, Hôpital Européen Georges Pompidou, AP-HP, Paris, France.
  • Mirault T; Département de Génétique, Centre National de Référence pour les Maladies Vasculaires Rares, Centre de Référence Européen VASCERN MSA, Hôpital Européen Georges Pompidou, AP-HP, Paris, France.
  • Ferraris A; Medical Genetics Unit, Experimental Medicine Department, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Di Giosaffatte N; Medical Genetics Unit, Experimental Medicine Department, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Grammatico P; Medical Genetics Unit, Experimental Medicine Department, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Grunert J; Deutsche Ehlers-Danlos Initiative e.V., Fürth, Germany.
  • Frank C; Bindweefsel.be, Koersel, Belgium.
  • Symoens S; Centre for Medical Genetics, Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University and Ghent University Hospital, Belgium.
  • Syx D; Centre for Medical Genetics, Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University and Ghent University Hospital, Belgium.
  • Malfait F; Centre for Medical Genetics, Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University and Ghent University Hospital, Belgium. fransiska.malfait@ugent.be.
Clin Exp Rheumatol ; 40 Suppl 134(5): 46-62, 2022 May.
Article em En | MEDLINE | ID: mdl-35587586
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Ehlers-Danlos / Cadeia alfa 1 do Colágeno Tipo I Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Humans Idioma: En Revista: Clin Exp Rheumatol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Bélgica
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Ehlers-Danlos / Cadeia alfa 1 do Colágeno Tipo I Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Humans Idioma: En Revista: Clin Exp Rheumatol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Bélgica