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

• Main Authors: Kanokwan Sriwattanapong (Author), Thanakorn Theerapanon (Author), Lawan Boonprakong (Author), Anucharte Srijunbarl (Author), Thantrira Porntaveetus (Author), Vorasuk Shotelersuk (Author)
• Format: Book
• Published: Nature Publishing Group, 2023-04-01T00:00:00Z.
• Subjects: article
• Online Access: 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...