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A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1.
Cammarata-Scalisi, Francisco; Matysiak, Uta; Velten, Tanja; Callea, Michele; Araque, Dianora; Willoughby, Colin E; Galeotti, Angela; Avendaño, Andrea.
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  • Cammarata-Scalisi F; Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of Los Andes, Mérida, Venezuela.
  • Matysiak U; Center for Pediatrics and Adolescent Medicine, Medical Center, University of Freiburg, Freiburg, Germany.
  • Velten T; Center for Pediatrics and Adolescent Medicine, Medical Center, University of Freiburg, Freiburg, Germany.
  • Callea M; Unit of Dentistry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Araque D; Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of Los Andes, Mérida, Venezuela.
  • Willoughby CE; Biomedical Sciences Research Institute, Ulster University, Coleraine, Northern Ireland, UK.
  • Galeotti A; Unit of Dentistry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Avendaño A; Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of Los Andes, Mérida, Venezuela.
Mol Syndromol ; 10(3): 167-170, 2019 May.
Article en En | MEDLINE | ID: mdl-31191206
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE País/Región como asunto: America do sul / Venezuela Idioma: En Revista: Mol Syndromol Año: 2019 Tipo del documento: Article País de afiliación: Venezuela
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE País/Región como asunto: America do sul / Venezuela Idioma: En Revista: Mol Syndromol Año: 2019 Tipo del documento: Article País de afiliación: Venezuela