Article
Tooth ultrastructure of a novel COL1A2 mutation expanding its genotypic and phenotypic spectra.
Oral diseases - 1 Jul 2021
Intarak Narin, Budsamongkol Thunyaporn, Theerapanon Thanakorn, Chanamuangkon Theerapat, Srijunbarl Anucharte, Boonprakong Lawan, Porntaveetus Thantrira, Shotelersuk Vorasuk
Abstract excerpt
OBJECTIVES: To investigate tooth ultrastructure and mutation of two patients in a family affected with osteogenesis imperfecta (OI) type IV and dentinogenesis imperfecta (DGI). METHODS: Mutations were detected by whole exome and Sanger sequencing. The permanent second molar obtained from the proband (DGI1) and the primary first molar from his affected son (DGI2) were studied for their color, roughness, mineral...
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