hrp0082p2-d1-285 | Bone | ESPE2014
, Netzer Christian
, Becker Jutta
, Schoenau Eckhard
, Semler Oliver
Introduction: Osteogenesis imperfecta (OI) is a hereditary disease characterized by a wide range of skeletal signs. Mutations in COL1A1/A2 have been known to cause dominant OI. Recently, a heterozygous mutation in the 5′-UTR of IFITM5 (c.−14C>T) was identified as a new cause of dominant OI. We present three patients from three different families with two mutations in IFITM5 with extremely different phenotypes.Description...