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Article

[Hereditary multiple exostoses. Molecular genetic analysis of the EXT1 gene in an unusual family].

Der Orthopade - 1 May 2005

Heinritz W, Pretzsch M, Koall S, Matzen P F, Froster U G

Abstract excerpt

Hereditary multiple exostosis (HME), a disorder inherited in an autosomal dominant manner, is characterized by multiple projections of bone, mainly at the extremities. The risk of malignant transformation of the exostoses is estimated to be up to 2%. The most common underlying cause of the diseas...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15739063
DOI: 10.1007/s00132-005-0774-0

Genes

EXT1
EXT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15739063-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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[Hereditary multiple exostoses. Molecular genetic analysis of the EXT1 gene in an unusual family].PMID 15739063Read ↗

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A 651-665delinsTT mutation in EXT1 causes hereditary multiple exostoses.Semantic proximity Read ↗

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