IMPE Abstracts

Skeletal dysplasia (SD) and metabolic bone diseases (MBD) are congenital diseases which result in abnormalities in bone morphometry and mineral metabolism. Advances in molecular genetics research have revealed many gene variants that cause SD and MBD. In 2019, nosology and classification of genetic skeletal disorders was revised in which 437 different genes have been found in 425 (92%) of these disorders 1), and new genetic etiologies are continually being discovere...