2012年5月29日 · Osteogenesis imperfecta. In F. Singer (Ed.), Diseases of bone and metabolism. Retrieved May 29, 2012 ...

2012年5月7日 · Osteogenesis imperfecta means “imperfect bone formation” and is commonly known as “brittle bone disease” or OI. It is a rare genetic disorder that affects the protein collagen, which is found in bone, teeth, skin, tendons, and parts of the eye.

Respiratory issues in osteogenesis imperfecta. Retrieved May 7, 2012, from https: ...

2012年5月7日 · NICHD conducts research on osteogenesis imperfecta in order to clarify the ways in which the primary gene defect causes skeletal fragility and other connective-tissue symptoms.

OI is caused by defects in or related to a protein called type 1 collagen. Collagen is an essential building block of the body, used to make bones strong and to build tendons, ligaments, and teeth.

2012年5月7日 · OI, or “brittle bone disease,” is a condition causing fragile bones that break easily.

2021年12月20日 · If OI is moderate or severe, healthcare providers usually diagnose it during prenatal ultrasound. If OI is milder, parents or healthcare providers may notice symptoms in infants or children.

2023年9月8日 · Lung disease is the leading cause of illness and death for people with osteogenesis imperfecta (OI), a group of rare genetic bone fragility disorders that affect the structure or quantity of the protein collagen. Most cases of OI are caused by mutations in the genes that provide instructions for type 1 collagen, the major protein component of bone.

2016年8月11日 · In mild forms, bones may break only a few times in a person's life. People with severe forms of osteogenesis imperfecta may have hundreds of bone fractures in their lifetimes. Before the current study, all of the known forms of osteogenesis imperfecta were found to arise from genes on the autosomal, or non-sex, chromosomes.

2012年5月10日 · MAS is a genetic disorder, which means that a change, also called a mutation, in a gene causes it. Genes are in the chromosomes of almost all human cells, and they code for each cell’s specialized actions.