Osteogenesis imperfecta is a genetic disorder characterized by low bone mass, decreased
bone strength, increased bone fragility, and shortened stature. Autosomal dominant …

Bone material strength is determined by several factors, such as bone mass, matrix
composition, mineralization, architecture and shape. From a clinical perspective, bone …

Collagen is a macromolecule that has versatile roles in physiology, ranging from structural
support to mediating cell signaling. Formation of mature collagen fibrils out of procollagen α …

OBJECTIVE: Literature review of new genes related to osteogenesis imperfecta (OI) and
update of its classification. SOURCES: Literature review in the PubMed and OMIM …

Osteogenesis imperfecta (OI) is a relatively common genetic skeletal disorder with an
estimated frequency of 1 in 20 000 worldwide. The manifestations are diverse and although …

Osteogenesis imperfecta (OI) is an inherited heterogeneous rare skeletal disorder
characterized by increased bone fragility and low bone mass. The disorder mostly …

Osteogenesis imperfecta (OI) types VII, VIII and IX, caused by recessive mutations in
cartilage-associated protein (CRTAP), prolyl-3-hydroxylase 1 (P3H1) and cyclophilin B …

Background Osteogenesis imperfecta (OI) is a heterogeneous bone disorder characterized
by recurrent fractures. Although most cases of OI have heterozygous mutations in COL 1A1 …

Treatment with zoledronic acid (ZA) over 2 years, among 33 children with osteogenesis
imperfecta (OI) and five Bruck syndrome cases, showed reduction in fracture rates, pain, and …

Otosclerosis is a relatively common heterogenous condition, characterized by abnormal
bone remodelling in the otic capsule leading to fixation of the stapedial footplate and an …