ba0002oc19 | Miscellaneous | ICCBH2013
Hoyer-Kuhn Heike
, Semler Oliver
, Netzer Christian
, Dotsch Jorg
, Schonau Eckhard
Background: Osteogenesis imperfecta (OI) as a rare disease is characterized by reduced bone mass, increased fracture rate, bone deformities and skeletal pain.Currently patients are treated with i.v. bisphosphonates regardless of the underlying mutation.Recently the gene causing OI type VI was described (SERPINF-1, altered RANKL-pathway). This leads to a new understanding of the underlying pathophysiology and offered a new therapeut...