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Article

Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.

American journal of human genetics - 1 Sept 1997

Philippe C, Porter D E, Emerton M E, Wells D E, Simpson A H, Monaco A P

Abstract excerpt

Hereditary multiple exostoses (HME), the most frequent of all skeletal dysplasias, is an autosomal dominant disorder characterized by the presence of multiple exostoses localized mainly at the end of long bones. HME is genetically heterogeneous, with at least three loci, on 8q24.1 (EXT1), 11p11-p13 (EXT2), and 19p (EXT3). Both the EXT1 and EXT2 genes have been cloned recently and define a new family of potential...

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Source

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Identifiers

PMID: 9326317
DOI: 10.1086/515505
PMCID: PMC1715939

Genes

EXT1
EXT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.PMID 9326317Read ↗

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20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.Semantic proximity Read ↗

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