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Article

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

American journal of human genetics - 1 Jan 1997

Hecht J T, Hogue D, Wang Y, Blanton S H, Wagner M, Strong L C, Raskind W, Hansen M F, Wells D

Abstract excerpt

Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the formation of cartilage-capped prominences that develop from the growth centers of the long bones. EXT is genetically heterogeneous, with three loci, currently identified on chromosomes 8q24.1, 11p13, and 19q. The EXT1 gene, located on chromosome 8q24.1, has been cloned and is encoded by a 3.4-kb cDNA. Five mutations in the...

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Identifiers

PMID: 8981950
PMCID: PMC1712567

Genes

EXT1
EXT2

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Related research

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Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.PMID 8981950Read ↗

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

Identification of novel mutations in the human EXT1 tumor suppressor gene.Semantic proximity Read ↗

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

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

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

Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses.Semantic proximity Read ↗

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

Mutation analysis of hereditary multiple exostoses in the Chinese.Semantic proximity Read ↗

Three novel EXT1 and EXT2 gene mutations in Taiwanese patients with multiple exostoses.Semantic proximity Read ↗

Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.Semantic proximity Read ↗

Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin.Semantic proximity Read ↗

[Identification of mutations in the human EXT1 and EXT2 genes].Semantic proximity Read ↗

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