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

• 主要な著者: Kanokwan Sriwattanapong (著者), Thanakorn Theerapanon (著者), Lawan Boonprakong (著者), Anucharte Srijunbarl (著者), Thantrira Porntaveetus (著者), Vorasuk Shotelersuk (著者)
• フォーマット: 図書
• 出版事項: Nature Publishing Group, 2023-04-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract 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 pa...