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

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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 19...

Topics

Bone Neoplasms
Chondroblastoma
Chondrosarcoma
Exostoses, Multiple Hereditary
Female
Gene Deletion
Genetic Markers
Heterozygote
Humans
Male
Mutation
Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 8981950
PMCID: PMC1712567

Genes

EXT1
EXT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8981950-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.