Purpose Osteogenesis imperfecta (OI) is a rare inherited heterogeneous connective tissue
disorder characterized by bone fragility, low bone mineral density, skeletal deformity and …

Osteogenesis imperfecta (OI) is a large group of genetically heterogeneous diseases
resulting from decreased bone density and an abnormal microarchitecture, which are …

In contrast to “classical” forms of osteogenesis imperfecta (OI) types I to IV, caused by a
mutation in COL1A1/A2, OI type V is due to a gain‐of‐function mutation in the IFITM5 gene …

Osteogenesis imperfecta (OI) type V is caused by an autosomal dominant mutation in the
IFITM5 gene, also known as BRIL. The c.-14C> T mutation in the 5'UTR of BRIL creates a …

Hearing loss (HL) is an extra‐skeletal manifestation of the connective tissue disorder
osteogenesis imperfecta (OI). Systematic evaluation of the prevalence and characteristics of …

Osteogenesis imperfecta (OI) is an inherited connective tissue disorder characterized by
bone fragility and is characterized by clinical and genetic heterogeneity. Previous studies …

Introduction Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous
disorder caused by disruption of type I collagen synthesis. Previous Brazilian molecular OI …

Osteogenesis imperfecta (OI) type V is an ultrarare heritable bone disorder caused by the
heterozygous c.-14C> T mutation in IFITM5. The oro-dental and craniofacial phenotype has …

Type V osteogenesis imperfecta (OI) is a form of OI characterized by radial head dislocation
(RHD), calcification of interosseous membrane (CIM), and hyperplastic callus (HPC). In this …

Abstract Introduction Patients with Osteogenesis Imperfecta (OI) Type 3 may exhibit both
primitive deformities and secondary fracture malunions on a femoral level. The orthopaedic …