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Article

Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis

26 Aug 2002

Abstract excerpt

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 the synthesis of heparan sulfate chains. This protein activity is predicted to play a role in the expression of proteoglycans on the cell...

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PMID: 12239711
DOI: 10.1002/ajmg.10635

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Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosisPMID 12239711Read ↗

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Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.Semantic proximity Read ↗

Heparan sulfate abnormalities in exostosis growth plates.Semantic proximity Read ↗

Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses.Semantic proximity Read ↗

Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.Semantic proximity Read ↗

Genotype-phenotype correlation in hereditary multiple exostoses.Semantic proximity Read ↗

A novel deletion mutation of the EXT2 gene in a large Chinese pedigree with hereditary multiple exostosis.Semantic proximity Read ↗

Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses.Semantic proximity Read ↗

Hereditary Multiple Exostoses—A Review of the Molecular Background, Diagnostics, and Potential Therapeutic StrategiesSemantic proximity Read ↗

A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfateSemantic proximity Read ↗

Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families.Semantic proximity Read ↗

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