Osteogenesis imperfecta is a phenotypically and molecularly heterogeneous group of
inherited connective tissue disorders that share similar skeletal abnormalities causing bone …

Osteogenesis imperfecta (OI) is a phenotypically and genetically heterogeneous skeletal
dysplasia characterized by bone fragility, growth deficiency, and skeletal deformity …

A new paradigm has emerged for osteogenesis imperfecta as a collagen-related disorder.
The more prevalent autosomal dominant forms of osteogenesis imperfecta are caused by …

Osteogenesis imperfecta is a genetic disorder of increased bone fragility, low bone mass,
and other connective-tissue manifestations. The most frequently used classification outlines …

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

Osteogenesis imperfecta (OI) is the most prevalent heritable bone fragility disorder in
children. It has been known for three decades that the majority of individuals with OI have …

Prolyl hydroxylation is a critical posttranslational modification that affects structure, function,
and turnover of target proteins. Prolyl 3-hydroxylation occurs at only one position in the triple …

Sphingolipids are an important class of lipid molecules that play fundamental roles in our
cells and body. Beyond a structural role, it is now clearly established that sphingolipids …

Osteogenesis imperfecta is a clinically and genetically heterogeneous brittle bone disorder
that results from defects in the synthesis, structure, or posttranslational modification of type I …

Osteogenesis imperfecta, or brittle bone disease, is a congenital disease that primarily
causes low bone mass and bone fractures but it can negatively affect other organs. It is …