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Article

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.

Molecular genetics & genomic medicine - 1 May 2018

Santos Savana C L, Rizzo Isabela M P O, Takata Reinaldo I, Speck-Martins Carlos E, Brum Jaime M, Sollaci Claudio

Abstract excerpt

BACKGROUND: Multiple osteochondromas is a dysplasia characterized by growth of two or more osteochondromas. It is genetically heterogeneous, caused by pathogenic variants in EXT1 or EXT2 genes in 70%-90% of patients. The EXT1 is more often mutated than EXT2 gene, with a variable prevalence between populations. There are no data about EXT1 and EXT2 pathogenic variants in patients with multiple osteochondromas in...

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Identifiers

PMID: 29529714
DOI: 10.1002/mgg3.382
PMCID: PMC6014457

Genes

EXT2
EXT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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