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Article

Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11

1 Jan 1994

Abstract excerpt

Hereditary multiple exostoses (EXT) is an autosomal dominant disorder of enchondral bone formation characterized by multiple bony outgrowths (exostoses), with progression to osteosarcoma in a minority of cases. The exclusive involvement of skeletal abnormalities distinguishes EXT from the clinically more complex Langer-Giedion syndrome (LGS), which is associated with deletions at chromosome 8q24. Previously,...

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Identifiers

PMID: 8162019
DOI: 10.1093/hmg/3.1.167

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11PMID 8162019Read ↗

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

Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletionSemantic proximity Read ↗

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

Positional cloning of a gene involved in hereditary multiple exostosesSemantic proximity Read ↗

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

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

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

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

Interstitial deletion of 11 (P11.2p12): A newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2)Semantic proximity Read ↗

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

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