hrp0092fc6.1 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019
Hedjazi Ghazal
, Guterman-Ram Gali
, Blouin Stéphane
, Roschger Paul
, Klaushofer Klaus
, Fratzl-Zelman Nadja
, Marini Joan C
Objectives: Osteogenesis imperfecta (OI) is an extremely heterogeneous connective tissue disorder characterized by low bone mass, which together with altered bone matrix properties leads to skeletal fragility. Due to the wide range of symptoms, the pathophysiology of the OI is not fully understood. Null mutations in SERPINF1, encoding the potent antiangiogenic factor PEDF, cause type VI OI with excessive osteoid formation, abnormal osteoblast-osteocyt...