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Article

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses.

Journal of applied genetics - 1 May 2014

Jamsheer Aleksander, Socha Magdalena, Sowińska-Seidler Anna, Telega Kinga, Trzeciak Tomasz, Latos-Bieleńska Anna

Abstract excerpt

Hereditary multiple exostoses (HME) also known as multiple osteochondromas represent one of the most frequent bone tumor disorder in humans. Its clinical presentation is characterized by the presence of multiple benign cartilage-capped tumors located most commonly in the juxta-epiphyseal portions of long bones. HME are usually inherited in autosomal dominant manner, however de novo mutations can also occur. In...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24532482
DOI: 10.1007/s13353-014-0195-z
PMCID: PMC3990859

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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