Article
Hereditary multiple exostoses: from genetics to clinical syndrome and complications.
European journal of radiology - 1 Dec 2001
Vanhoenacker F M, Van Hul W, Wuyts W, Willems P J, De Schepper A M
Abstract excerpt
OBJECTIVE: To give an overview of genetic, clinical and radiological aspects in two families over four generations with known hereditary multiple exostoses (HME). METHODS AND MATERIAL: After linkage analysis in both families to localize the defective gene, mutation analysis was performed in these genes to identify the underlying mutation. In the 31 affected individuals, location, number and morphology and...
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