Genotype-Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease

• Main Authors: Jingru Shi (Author), Meng Ren (Author), Jinmeng Jia (Author), Muxue Tang (Author), Yongli Guo (Author), Xin Ni (Author), Tieliu Shi (Author)
• Format: Book
• Published: Frontiers Media S.A., 2019-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Osteogenesis imperfecta (OI), mainly caused by structural abnormalities of type I collagen, is a hereditary rare disease characterized by increased bone fragility and reduced bone mass. Clinical manifestations of OI mostly include multiple repeated bone fractures, thin skin, blue sclera, hearing los...