TY - JOUR AU - Etich, Julia AU - LeƟmeier, Lennart AU - Rehberg, Mirko AU - Sill, Helge AU - Zaucke, Frank AU - Netzer, Christian AU - Semler, Oliver PY - 2020 DA - 2020/08/14 TI - Osteogenesis imperfectaā€”pathophysiology and therapeutic options JO - Molecular and Cellular Pediatrics SP - 9 VL - 7 IS - 1 AB - Osteogenesis imperfecta (OI) is a rare congenital disease with a wide spectrum of severity characterized by skeletal deformity and increased bone fragility as well as additional, variable extraskeletal symptoms. Here, we present an overview of the genetic heterogeneity and pathophysiological background of OI as well as OI-related bone fragility disorders and highlight current therapeutic options. SN - 2194-7791 UR - https://doi.org/10.1186/s40348-020-00101-9 DO - 10.1186/s40348-020-00101-9 ID - Etich2020 ER -