Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation

• Main Authors: Piranit Nik Kantaputra, Yuddhasert Sirirungruangsarn, Worrachet Intachai, Chumpol Ngamphiw, Sissades Tongsima, Prapai Dejkhamron
• Format: Journal
• Published: 2018
• Subjects: Biochemistry, Genetics and Molecular Biology; Medicine
• Online Access: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85045136296&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/58231
• Institution: Chiang Mai University

© 2018 The Author(s) under exclusive licence to The Japan Society of Human Genetics. We report a Thai father (patient 1) and his daughter (patient 2) affected with osteogenesis imperfecta type IV and dentinogenesis imperfecta. Both were heterozygous for the c.1451G>A (p.Gly484Glu) mutation in COL...