Osteogenesis imperfecta (OI) is an inherited skeletal dysplasia characterized by bone
fragility and skeletal deformities. While the majority of cases are associated with pathogenic …

Osteogenesis imperfecta is a skeletal dysplasia characterized by bone fragility and
extraskeletal manifestations. Better understanding of the mechanisms of osteogenesis …

Imaging is an essential tool in research, diagnostics and the management of endocrine
disorders. Ultrasonography, nuclear medicine techniques, MRI, CT and optical methods are …

Context Osteogenesis imperfecta (OI) is a genetic disorder characterized by increased bone
fragility largely caused by defects in structure, synthesis, or post-translational processing of …

Bone and muscle represent a single functional system and are tightly connected to each
other. Indeed, diseases characterized by alterations of muscle physiology have effects on …

Osteogenesis imperfecta (OI) is an uncommon genetic disorder characterized by shortness
of stature, hearing loss, poor bone mass, recurrent fractures, and skeletal abnormalities …

Osteogenesis imperfecta (OI) is a disease characterised by altered bone tissue material
properties together with abnormal micro and macro-architecture and thus bone fragility …

Skeletal defects are hallmark features of many extracellular matrix (ECM) and collagen-
related disorders. However, a biological function in bone has never been defined for the …

Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder of skeletal
fragility with an incidence of roughly 1: 15,000. Approximately 85% of the pathogenic …

Impaired muscle parameters may further compromise the already compromised skeleton in
individuals with OI. This cross-sectional study aimed to compare muscle function and body …