ESPE Abstracts

Genetic factors play an important role in osteoporosis. Several monogenic forms of osteoporosis have been recognized. The most common is osteogenesis imperfecta (OI) in which heterozygous mutations in the genes encoding type 1 collagen are responsible for ~90% of the cases. Several rare autosomal recessive forms of OI have also been described. In these the defects lie in proteins involved in posttranslational modification of type 1 collagen. Recent studies have also identified...