Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study.

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 exo...

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Hlavní autoři: Porter, D, Lonie, L, Fraser, M, Dobson-Stone, C, Porter, JR, Monaco, A, Simpson, A
Médium: Journal article
Jazyk:English
Vydáno: 2004