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Article

Positional cloning of a gene involved in hereditary multiple exostoses

1 Oct 1996

Abstract excerpt

Hereditary multiple exostosis (EXT) is an autosomal dominant condition mainly characterized by the presence of multiple exostoses on the long bones. These exostoses are benign cartilaginous tumors (enchondromata). Three different EXT loci on chromosomes 8q (EXT1), 11p (EXT2) and 19p (EXT3) have been reported, and recently the EXT1 gene was identified by positional cloning. To isolate the EXT2 gene, we constructed...

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Identifiers

PMID: 8894688
DOI: 10.1093/hmg/5.10.1547

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Positional cloning of a gene involved in hereditary multiple exostosesPMID 8894688Read ↗

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Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosisSemantic proximity Read ↗

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

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