Article
Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.
Human mutation - 1 Jan 1998
Raskind W H, Conrad E U, Matsushita M, Wijsman E M, Wells D E, Chapman N, Sandell L J, Wagner M, Houck J
Abstract excerpt
Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by growth of benign bone tumors. Three chromosomal loci have been implicated in this genetically heterogeneous disease: EXT1 at 8q24, EXT2 at 11p13, and EXT3 on 19p. EXT1 and EXT2 were recently cloned. We evaluated 34 families with EXT to estimate the proportion of disease attributable to EXT1, EXT2, and EXT3 and to investigate...
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