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The molecular and cellular basis of exostosis formation in hereditary multiple exostoses

✍ Scribed by Christianne M. A. Reijnders; Pancras C. W. Hogendoorn; Judith V. M. G. Bovée

Book ID
108785887
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
37 KB
Volume
90
Category
Article
ISSN
0959-9673

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Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the formation of exostoses, which are cartilage-capped bony protuberances mainly located on long bones. Two genes, EXT1 and EXT2, and at least one other unidentified gene, are known to be involved in the formation

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## Abstract __EXT1__ and __EXT2__ are genes that have been shown to cause hereditary multiple exostosis (HME), a syndrome marked by the formation of bony growths juxtaposed to the growth plate. These genes are members of a growing family of proteins with glycosyltransferase activity required for th