Novel COL1A1 gene mutation (R1026X) of type I osteogenesis imperfecta: A first case report

• Main Authors: Sathit Niramitmahapanya, Thitinun Anusornvongchai, Sarinee Pingsuthiwong, Veerasak Sarinnapakorn, Chaicharn Deerochanawong, Thongkum Sunthornthepvarakul
• Other Authors: Rangsit University
• Format: Article
• Published: 2018
• Subjects: Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/32460
• Institution: Mahidol University

A 22-year-old Thai man with blue sclera, normal height and absence of deformity sustained an open fracture at the right talus and talo-navicular dislocation while playing in a volleyball match. The patient had a history of several fractures of his elbows, wrists and ankles from minor impacts. Novel...