Endocrine Abstracts

Hereditary multiple exostosis (HME) is an autosomal dominant disorder characterised by the development of benign cartilage-capped tumours, located at the juxtaepiphyseal regions of long bones. Patients suffer from short stature and skeletal deformities and may occasionally develop chondrosarcomas or osteosarcomas.HME is a genetically heterogeneous disorder and three loci referred to as EXT1, EXT2 and EXT3 have been mapped to chromosomes 8q24.1, 11p11-12...