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Article

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

Genes, chromosomes & cancer - 1 Apr 2013

Waaijer Cathelijn J F, Winter Marcel G T, Reijnders Christianne M A, de Jong Daniëlle, John Ham S, Bovée Judith V M G, Szuhai Károly

Abstract excerpt

Multiple osteochondromas (MO) is a syndrome in which benign cartilage-capped neoplasms develop at the surface of the long bones. Most cases are caused by exonic changes in EXT1 or EXT2, but 15% are negative for these changes. Here we report for the first time a family of MO patients with germline genomic alterations at the EXT1 locus without detectable mutations or copy number alterations of EXT exonic sequences....

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Source

Identifiers

PMID: 23341036
DOI: 10.1002/gcc.22041

Genes

EXT1
EXT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Intronic deletion and duplication proximal of the EXT1 gene: a novel causative mechanism for multiple osteochondromas.PMID 23341036Read ↗

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