marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients
Osteogenesis imperfecta (OI) type V is an autosomal dominant bone fragility disorder that we had described a decade ago. Recent research has shown that OI type V is caused by a recurrent c.-14C>T mutation in IFITM5. In the present study, we assessed all patients diagnosed with OI type V at our institutions for the presence of the IFITM5 mutation.
Journal of Medical Genetics, 2013, Vol 50, Issue 1, p. 21-4
Journal Article; Research Support, Non-U.S. Gov't; Adolescent; Adult; Aged; Bone and Bones; Child; Child, Preschool; Female; Humans; Male; Membrane Proteins; Middle Aged; Mutation; Osteogenesis Imperfecta; Phenotype; Young Adult