Article
Age-related dental phenotypes and tooth characteristics of FAM83H-associated hypocalcified amelogenesis imperfecta.
Oral diseases - 1 Apr 2022
Sriwattanapong Kanokwan, Nitayavardhana Issree, Theerapanon Thanakorn, Thaweesapphithak Sermporn, Chantarawaratit Pintu-On, Garuyakich Rakkierti, Phokaew Chureerat, Porntaveetus Thantrira, Shotelersuk Vorasuk
Abstract excerpt
OBJECTIVES: Autosomal-dominant hypocalcified amelogenesis imperfecta (ADHCAI) shows phenotypic heterogeneity. Our aim was to characterise the ADHCAI phenotypes, tooth properties and genotypes. METHODS: Three unrelated ADHCAI probands and seven additional affected members of the three families were recruited. Mutations were identified by exome and Sanger sequencing, and haplotypes by SNP array. Tooth colour,...
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