The Journal of Bone and Joint Surgery (American). 2009;91:58-62.
doi:10.2106/JBJS.I.00391
© 2009 The Journal of Bone and Joint Surgery, Inc.
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Multiple Hereditary Exostosis, EXT Genes, and Skeletal Development

Linda J. Sandell, PhD1

1 Department of Orthopaedic Surgery, Washington University School of Medicine, MS 8233, 660 South Euclid Avenue, St. Louis, MO 63110. E-mail address: Sandelll@wudosis.wustl.edu

The first 150 words of the full text of this article appear below.


   Introduction
 
Multiple hereditary exostosis is an autosomal dominant inherited disease in which osteochondral growths occur on the periphery of bones. These growths are comprised of bone surrounded by a cap of cartilage. A small number of these exostoses proceed to a low-grade chondrosarcoma1,2. Although the disease can occur spontaneously, it has been estimated that 80% of affected individuals have a positive family history2.

Research on the genetics of multiple hereditary exostosis over the past thirty years has been productive. Advances in the understanding of the disease have paralleled the methodological advances that have occurred in the field of molecular genetics. Initially, it was recognized that multiple hereditary exostosis is often inherited and that large families were available for genetic mapping. As techniques for gene mapping improved, regions of the chromosomes involved were identified, localized, and eventually subjected to DNA sequencing. The genes identified, the exostosins, were found to encode . . . [Full Text of this Article]


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