Article
Tibial plateau fracture and RNA sequencing with osteogenesis imperfecta: a case report.
Frontiers in endocrinology - 1 Jan 2023
Chen Yixiao, Li Guoqing, Wei Liangchen, Weng Jian, Liu Su, Gu Mingxi, Liu Pei, Zhu Yuanchao, Xiong Ao, Zeng Hui, Yu Fei
Abstract excerpt
Osteogenesis imperfecta (OI) is a hereditary skeletal dysplasia with an incidence of approximately 1:15,000 to 20,000. OI is usually caused by the mutation of COL1A1 and COL1A2, which would encode the α-chain of type I collagen. OI is clinically characterized by decreased bone mass, increased risk of bone fragility, blue sclerae, and dentinogenesis. Case presentation: A 29-year-old male patient was diagnosed with...
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