Genotype-Phenotype Correlation Study in 529 Patients with Multiple Hereditary Exostoses: Identification of “Protective” and “Risk” Factors

Background Multiple hereditary exostoses is an autosomal dominant skeletal disorder characterized by wide variation in clinical phenotype. The aim of this study was to evaluate whether the severity of the disease is linked with a specific genetic background. Methods Five hundred and twenty-nine pati...

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Veröffentlicht in:Journal of bone and joint surgery. American volume 2011, Vol.93 (24), p.2294-2302
Hauptverfasser: Pedrini, Elena, PhD, Tremosini, Morena, RN, Milanesi, Annamaria, PhD, Mordenti, Marina, PhD, Parra, Alessandro, PhD, Sgariglia, Federica, PhD, Zuntini, Monia, MS, Sangiorgi, Luca, MD, PhD, Campanacci, Laura, MD, PhD, Fabbri, Nicola, MD, Pignotti, Elettra, PhD, Jennes, Ivy, PhD, Wuyts, Wim, PhD
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Sprache:eng
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