2023年2月6日 · Osteogenesis imperfecta (OI) is a genetic disorder of connective tissues caused by an abnormality in the synthesis or processing of type I collagen. It is also called brittle bone …

Osteogenesis imperfecta (OI) is a rare congenital disease with a wide spectrum of severity characterized by skeletal deformity and increased bone fragility as well as additional, variable …

2023年8月9日 · In this paper, we summarize and sort out the pathogenic mechanisms of OI, and analyze the molecular pathogenic mechanisms of OI from the perspectives of type I collagen …

2020年8月14日 · Here, we present an overview of the genetic heterogeneity and pathophysiological background of OI as well as OI-related bone fragility disorders and highlight …

2021年6月1日 · Osteogenesis imperfecta (OI) is an hereditary connective tissue disorder characterized by variable degrees of bone fragility leading to fractures and deformation …

In this Seminar, together with diagnosis, management, and treatment, we describe the defects causing osteogenesis imperfecta and their mechanism and interrelations, and classify them …

Osteogenesis imperfecta (OI) or “brittle bone disease” is a rare hereditable skeletal dysplasia with an incidence of 1 in 15 000 to 20 000 live births. It is characterized clinically by bone fragility, …

2009年4月26日 · Osteogenesis imperfecta (OI) is the most common of the inherited connective tissue disorders that primarily affect bone. However, it is a systemic disorder, as evidenced by …

Osteogenesis imperfecta is a rare hereditary disease mostly caused by mutations impairing collagen synthesis and modification. Recently recessive forms have been described …

2017年8月18日 · Osteogenesis imperfecta — also known as brittle bone disease — is a phenotypically and genetically heterogeneous group of inherited bone dysplasias 1. Although …