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Article

EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.

American journal of human genetics - 1 Sept 1999

Bovée J V, Cleton-Jansen A M, Wuyts W, Caethoven G, Taminiau A H, Bakker E, Van Hul W, Cornelisse C J, Hogendoorn P C

Abstract excerpt

Osteochondromas occur as sporadic solitary lesions or as multiple lesions, characterizing the hereditary multiple exostoses syndrome (EXT). Approximately 15% of all chondrosarcomas arise within the cartilaginous cap of an osteochondroma. EXT is genetically heterogeneous, and two genes, EXT1 and EXT2, located on 8q24 and 11p11-p12, respectively, have been cloned. It is still unclear whether osteochondroma is a...

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Source

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Identifiers

PMID: 10441575
DOI: 10.1086/302532
PMCID: PMC1377975

Genes

EXT1
EXT2

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.PMID 10441575Read ↗

Ext-mutation analysis in Italian sporadic and hereditary osteochondromas.Semantic proximity Read ↗

Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas.Semantic proximity Read ↗

Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.Semantic proximity Read ↗

Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11.Semantic proximity Read ↗

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.Semantic proximity Read ↗

Intronic deletion and duplication proximal of the EXT1 gene: a novel causative mechanism for multiple osteochondromas.Semantic proximity Read ↗

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

The Role of EXT1 in Nonhereditary Osteochondroma: Identification of Homozygous DeletionsSemantic proximity Read ↗

Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromasSemantic proximity Read ↗

Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromasSemantic proximity Read ↗

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).Semantic proximity Read ↗

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.Semantic proximity Read ↗

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