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Article

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

Journal of human genetics - 1 Jul 2018

Kantaputra Piranit Nik, Sirirungruangsarn Yuddhasert, Intachai Worrachet, Ngamphiw Chumpol, Tongsima Sissades, Dejkhamron Prapai

Abstract excerpt

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 COL1A2. The father, a Thai boxer, had very mild osteogenesis imperfecta with no history of low-trauma bone fractures. Scanning electron micrography of the primary teeth with DI of the patient 2, and the...

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PMID: 29636545
DOI: 10.1038/s10038-018-0448-5

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