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Article

Evaluation of the anatomic burden of patients with hereditary multiple exostoses.

Clinical orthopaedics and related research - 1 Sept 2007

Alvarez Christine M, De Vera Mary A, Heslip Tim R, Casey Brett

Abstract excerpt

Hereditary multiple exostosis (HME) is an autosomal dominant condition resulting predominantly from mutations in the exostosin 1 (EXT1) and exostosin 2 (EXT2) genes. We asked two questions in our study: first, what is the anatomic burden of subjects with HME; second, is there a difference in anatomic burden in subjects with EXT 1 versus EXT 2. The anatomic burden experienced by HME patients was defined according...

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Source

Identifiers

PMID: 17589361
DOI: 10.1097/BLO.0b013e3181334b51

Genes

EXT1
EXT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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