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COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
Morlino, Silvia; Micale, Lucia; Ritelli, Marco; Rohrbach, Marianne; Zoppi, Nicoletta; Vandersteen, Anthony; Mackay, Sara; Agolini, Emanuele; Cocciadiferro, Dario; Sasaki, Erina; Madeo, Annalisa; Ferraris, Alessandro; Reardon, Willie; Di Rocco, Maja; Novelli, Antonio; Grammatico, Paola; Malfait, Fransiska; Mazza, Tommaso; Hakim, Alan; Giunta, Cecilia; Colombi, Marina; Castori, Marco.
Afiliación
  • Morlino S; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, 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, Brescia, Italy.
  • Rohrbach M; Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.
  • Zoppi N; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
  • Vandersteen A; Maritime Medical Genetics Service, Dalhousie University, Halifax, Canada.
  • Mackay S; Maritime Medical Genetics Service, Dalhousie University, Halifax, Canada.
  • Agolini E; Laboratory of Medical Genetics, IRCCS Bambino Gesù Children Hospital, Rome, Italy.
  • Cocciadiferro D; Laboratory of Medical Genetics, IRCCS Bambino Gesù Children Hospital, Rome, Italy.
  • Sasaki E; Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Crumlin, Ireland.
  • Madeo A; Unit of Rare Diseases, IRCCS Institute Gianna Gaslini, Genoa, Italy.
  • Ferraris A; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Reardon W; Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Crumlin, Ireland.
  • Di Rocco M; Unit of Rare Diseases, IRCCS Institute Gianna Gaslini, Genoa, Italy.
  • Novelli A; Laboratory of Medical Genetics, IRCCS Bambino Gesù Children Hospital, Rome, Italy.
  • Grammatico P; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Malfait F; Center for Medical Genetics, Ghent University, Ghent, Belgium.
  • Mazza T; Unit of Bioinformatics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy.
  • Hakim A; The Platinum Medical Center, The Wellington Hospital, London, UK.
  • Giunta C; Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.
  • Colombi M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
  • Castori M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy.
Clin Genet ; 97(3): 396-406, 2020 03.
Article en En | MEDLINE | ID: mdl-31794058
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Variación Genética / Enfermedades del Tejido Conjuntivo / Colágeno Tipo I / Síndrome de Ehlers-Danlos Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Clin Genet Año: 2020 Tipo del documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Variación Genética / Enfermedades del Tejido Conjuntivo / Colágeno Tipo I / Síndrome de Ehlers-Danlos Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Clin Genet Año: 2020 Tipo del documento: Article