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Novel ITGB6 variants cause hypoplastic-hypomineralized amelogenesis imperfecta and taurodontism: characterization of tooth phenotype and review of literature

11 Apr 2023

Abstract excerpt

OBJECTIVES: To characterize phenotype and genotype of amelogenesis imperfecta (AI) in a Thai patient, and review of literature. MATERIALS AND METHODS: Variants were identified using trio-exome and Sanger sequencing. The ITGB6 protein level in patient's gingival cells was measured. The patient's deciduous first molar was investigated for surface roughness, mineral density, microhardness, mineral composition, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37041139
DOI: 10.1038/s41405-023-00142-y

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