A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis.

CONTEXT: Hereditary multiple exostosis (HME) is an autosomal dominant disorder characterized by the development of benign cartilage-capped tumors at the juxta-epiphyseal regions of long bones. HME is usually caused by mutations of EXT1 or EXT2. OBJECTIVE: The objective of this study was to investig...

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Principais autores: Lemos, M, Kotanko, P, Christie, P, Harding, B, Javor, T, Smith, C, Eastell, R, Thakker, R
Formato: Journal article
Idioma:English
Publicado em: 2005