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Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene—the clinical and radiological follow‐up
2015; Wiley; Volume: 167; Issue: 4 Linguagem: Inglês
10.1002/ajmg.a.36954
ISSN1552-4833
AutoresKarina da Costa Silveira, Luciana Cardoso Bonadia, Andrea Superti‐Furga, Débora Romeo Bertola, Alexander A.L. Jorge, Denise P. Cavalcanti,
Tópico(s)Cell Adhesion Molecules Research
ResumoAmerican Journal of Medical Genetics Part AVolume 167, Issue 4 p. 894-901 Research Letter Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene—the clinical and radiological follow-up Karina C. Silveira, Karina C. Silveira Skeletal Dysplasia Group, Department of Medical Genetic, University of Campinas (UNICAMP), Campinas, São Paulo, BrazilSearch for more papers by this authorLuciana C. Bonadia, Luciana C. Bonadia Skeletal Dysplasia Group, Department of Medical Genetic, University of Campinas (UNICAMP), Campinas, São Paulo, BrazilSearch for more papers by this authorAndrea Superti-Furga, Andrea Superti-Furga Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, University of Lausanne (CHUV), Lausanne, SwitzerlandSearch for more papers by this authorDébora R. Bertola, Débora R. Bertola Genetics Unit, Children's Institute, Clinical Hospital, University of São Paulo (USP), São Paulo, São Paulo, BrazilSearch for more papers by this authorAlexander A.L. Jorge, Alexander A.L. Jorge Department of Endocrinology, University of São Paulo (USP), São Paulo, São Paulo, BrazilSearch for more papers by this authorDenise P. Cavalcanti, Corresponding Author Denise P. Cavalcanti Skeletal Dysplasia Group, Department of Medical Genetic, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil Correspondence to: Denise P. Cavalcanti, Skeletal Dysplasia Group, Department of Medical Genetic, UNICAMP. R. Tessália V. de Camargo, 126, Campinas, SP 13083-887, Brazil. E-mail: [email protected]Search for more papers by this author Karina C. Silveira, Karina C. Silveira Skeletal Dysplasia Group, Department of Medical Genetic, University of Campinas (UNICAMP), Campinas, São Paulo, BrazilSearch for more papers by this authorLuciana C. Bonadia, Luciana C. Bonadia Skeletal Dysplasia Group, Department of Medical Genetic, University of Campinas (UNICAMP), Campinas, São Paulo, BrazilSearch for more papers by this authorAndrea Superti-Furga, Andrea Superti-Furga Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, University of Lausanne (CHUV), Lausanne, SwitzerlandSearch for more papers by this authorDébora R. Bertola, Débora R. Bertola Genetics Unit, Children's Institute, Clinical Hospital, University of São Paulo (USP), São Paulo, São Paulo, BrazilSearch for more papers by this authorAlexander A.L. Jorge, Alexander A.L. Jorge Department of Endocrinology, University of São Paulo (USP), São Paulo, São Paulo, BrazilSearch for more papers by this authorDenise P. Cavalcanti, Corresponding Author Denise P. Cavalcanti Skeletal Dysplasia Group, Department of Medical Genetic, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil Correspondence to: Denise P. Cavalcanti, Skeletal Dysplasia Group, Department of Medical Genetic, UNICAMP. R. Tessália V. de Camargo, 126, Campinas, SP 13083-887, Brazil. E-mail: [email protected]Search for more papers by this author First published: 03 March 2015 https://doi.org/10.1002/ajmg.a.36954Citations: 7 Conflict of interest: none. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL REFERENCES Ala-Kokko L, Baldwin CT, Moskowitz RW, Prockop DJ. 1990. Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia. 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