Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation
© 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...
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Main Authors: | Piranit Nik Kantaputra, Yuddhasert Sirirungruangsarn, Worrachet Intachai, Chumpol Ngamphiw, Sissades Tongsima, Prapai Dejkhamron |
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Format: | Journal |
Published: |
2018
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Online Access: | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85045136296&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/58231 |
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Institution: | Chiang Mai University |
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