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Incomplete penetrance and expressivity skewing in hereditary multiple exostoses

1 Jul 1997

Abstract excerpt

Hereditary multiple exostosis (EXT) is an autosomal dominant skeletal disorder characterized by the formation of cartilage-capped prominences developing from the juxta-epiphyseal regions of the long bones and causing orthopedic deformities and occasionally sarcomatous degeneration. Reviewing a large cohort of 175 EXT patients referred to us over the last 40 years (1955-1995), we found 109 familial forms (62%) and...

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PMID: 9272707
DOI: 10.1111/j.1399-0004.1997.tb02508.x

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