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Article

Ulna/height ratio as clinical parameter separating EXT1 from EXT2 families?

Genetic testing - 1 Mar 2008

Leube Barbara, Hardt Karin, Portier Sebastian, Westhoff Bettina, Jäger Marcus, Krauspe Rüdiger, Royer-Pokora Brigitte

Abstract excerpt

Multiple osteochondromas (MO) is an autosomal-dominant inherited disorder. The two genes responsible (EXT1 and EXT2) have been identified. We investigated 12 MO families for phenotype details and the genetic basis by cosegregation and mutation analysis (seven novel pathogenic mutations [five frameshift, one splice site, and one gross deletion] and one novel missense polymorphism). We found EXT1 to be responsible...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exostoses, Multiple Hereditary

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Source

Identifiers

PMID: 18373409
DOI: 10.1089/gte.2007.0070

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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