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Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients.

Human mutation - 1 Feb 2011

Szuhai Károly, Jennes Ivy, de Jong Danielle, Bovée Judith V M G, Wiweger Malgorzata, Wuyts Wim, Hogendoorn Pancras C W

Abstract excerpt

Multiple osteochondromas (MO) is a hereditary skeletal disorder characterized by the presence of cartilage capped bony outgrowths at bone surface. Causative mutations in EXT1 or EXT2 genes have been described in 85-90 % of MO cases. However, in about 10-15 % of the MO cases, genomic alterations can not be detected, implying the potential role of other alterations. We have designed a custom-made Agilent...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21280143
DOI: 10.1002/humu.21423

Genes

EXT1
EXT2

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Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients.PMID 21280143Read ↗

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