Article
Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study.
The Journal of bone and joint surgery. British volume - 1 Sept 2004
Porter D E, Lonie L, Fraser M, Dobson-Stone C, Porter J R, Monaco A P, Simpson A H R W
Abstract excerpt
We performed a prospective genotype-phenotype study using molecular screening and clinical assessment to compare the severity of disease and the risk of sarcoma in 172 individuals (78 families) with hereditary multiple exostoses. We calculated the severity of disease including stature, number of exostoses, number of surgical procedures that were necessary, deformity and functional parameters and used molecular...
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