Article
A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis.
The Journal of clinical endocrinology and metabolism - 1 Sept 2005
Lemos Manuel C, Kotanko Peter, Christie Paul T, Harding Brian, Javor Theodora, Smith Christine, Eastell Richard, Thakker Rajesh V
Abstract excerpt
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 investigate a three-generation Austrian kindred with HME for EXT1 and EXT2 mutations and for abnormalities of bone mineral...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.