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Article

Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin.

Genetic testing and molecular biomarkers - 1 Feb 2009

Vanita Vanita, Sperling Karl, Sandhu Hardas Singh, Sandhu Parvinder Singh, Singh Jai Rup

Abstract excerpt

BACKGROUND: Hereditary multiple exostosis (HME) is an autosomal dominant bone disorder, characterized by short stature and the presence of multiple benign tumors mainly at the ends of long bones. HME is genetically heterogeneous with two known genes on 8q24 (EXT1) and 11p11 (EXT2), and a third minor locus mapped to 19p (EXT3). The majority of EXT1 and EXT2 mutations result in premature protein truncation and loss...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19309273
DOI: 10.1089/gtmb.2008.0055

Genes

EXT1
EXT2

Variants

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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