Article
Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification.
Orphanet journal of rare diseases - 9 Aug 2023
Yu Hongjie, Li Changrong, Wu Huixiao, Xia Weibo, Wang Yanzhou, Zhao Jiajun, Xu Chao
Abstract excerpt
Osteogenesis imperfecta (OI) is a connective tissue disorder affecting the skeleton and other organs, which has multiple genetic patterns, numerous causative genes, and complex pathogenic mechanisms. The previous classifications lack structure and scientific basis and have poor applicability. In this paper, we summarize and sort out the pathogenic mechanisms of OI, and analyze the molecular pathogenic mechanisms...
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