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 primary defects in type I ...

Parents, have you ever heard of osteogenesis imperfecta? This is a disease that often attacks bones. This disorder can attack children from birth. Osteogenesis imperfecta also has many types with ...

What Is Brittle Bone Disease? Brittle bone disease, also called osteogenesis imperfecta, is a genetic connective tissue disorder that is preset at birth and lasts for life. It causes fragile bones ...

The type I collagenopathies are a group of heterogeneous connective tissue disorders, that are caused by mutations in the genes encoding type I collagen and include specific forms of osteogenesis ...

Mutations in the genes COL1A1, COL1A2, CRTAP, and P3h2 result in OI. In most cases, the inheritance pattern is autosomal dominant and, in some cases, it could also be autosomal recessive. The gene ...

Brittle bone disease is a disorder that results in fragile bones that break easily. It’s present at birth and usually develops in children who have a family history of the disease. The disease is ...

Jay & Pamela shares the journey of a young couple living with Osteogenesis Imperfecta Type III. The show follows Jay Manuel and Pamela Chavez through their daily lives, which includes running errands ...

To date, muscle function, and in particular that of the lower extremity, in OI type IV has not been investigated systematically. This study now assesses upper and lower extremity muscle function ...

Classic osteogenesis imperfecta, an autosomal dominant disorder associated with osteoporosis and bone fragility, is caused by mutations in the genes for type I collagen. A recessive form of the ...

Osteogenesis imperfecta is a heritable disorder that causes bone fragility. Mutations in type I collagen result in autosomal dominant osteogenesis imperfecta, whereas mutations in either of two ...