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

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

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 …

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 · 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.

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 …

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

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 …

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 …

2019年5月21日 · Selected recent publications Omari S, Makareeva E, Roberts-Pilgrim A, Mirigian L, Jarnik M, Ott C, Lippincott-Schwartz J, Leikin S. Noncanonical autophagy at ER exit sites …