Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p223 | (1) | ICCBH2019

A preliminary data of a prospective study on Iranian patients with osteogenesis imperfecta

Hoseinbeyki Moslem , Moradifard Shirin , Mirkhani Fatemeh , Ehsani Parastoo , Saghiri Reza , Karimipoor Morteza , Alaei Mohammareza , Ebrahimi-Rad Mina

Objectives: Osteogenesis Imperfecta (OI), is a group of rare, heritable disorder of bone and connective tissue. The pathogenicity of OI arises from the mutations in about 17 different genes, involved in collagen type 1 synthesis, processing, post-translational modification, folding, cross-linking, bone mineralization, and osteoblast differentiation. Based on Sillence classification, there are four types of OI; Type I (mild, non-deforming), Type II (perinatal lethal), Type III ...