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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
Authors:Karina C. Silveira  Luciana C. Bonadia  Andrea Superti‐Furga  Débora R. Bertola  Alexander A.L. Jorge  Denise P. Cavalcanti
Affiliation:1. Skeletal Dysplasia Group, Department of Medical Genetic, University of Campinas (UNICAMP), Campinas, S?o Paulo, Brazil;2. Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, University of Lausanne (CHUV), Lausanne, Switzerland;3. Genetics Unit, Children's Institute, Clinical Hospital, University of S?o Paulo (USP), S?o Paulo, S?o Paulo, Brazil;4. Department of Endocrinology, University of S?o Paulo (USP), S?o Paulo, S?o Paulo, Brazil;5. Correspondence to:;6. Denise P. Cavalcanti, Skeletal Dysplasia Group, Department of Medical Genetic, UNICAMP. R. Tessália V. de Camargo, 126, Campinas, SP 13083‐887, Brazil.;7. E‐mail:
Abstract:
Keywords:
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