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 …

Osteogenesis imperfecta (OI) is a monogenic bone fragility disorder that usually is caused
by mutations in one of the two genes coding for collagen type I alpha chains, COL1A1 or …

On the occasion of the 13th International Conference on Osteogenesis imperfecta in August
2017 an expert panel was convened to develop an international consensus paper regarding …

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 …

Osteogenesis imperfecta is an inherited connective tissue disorder with wide phenotypic
and molecular heterogen-eity. A common issue associated with the molecular ab-normality …

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

One of the tests used for quantitative diagnostics is Timed Up-and-Go (TUG), however, no
reports were found regarding the percentage share of individual test components, which …

Osteogenesis imperfecta (OI) is mainly characterized by bone fragility but muscle
abnormalities have been reported both in OI mouse models and in children with OI. Muscle …

Background Osteogenesis imperfecta (OI) is a hereditary connective tissue disease often
due to mutations in genes coding for type 1 collagen. Collagen type 1 is important in the …

Ostegenesis Imperfecta (OI) is a hereditary disease of the connective tissue caused by
mutations to, mainly, the genes that are involved in the biosynthesis of collagen type 1 …