Article
The gain-of-function FAM83H mutation caused hypocalcification amelogenesis imperfecta in a Chinese family.
Clinical oral investigations - 1 May 2021
Zheng Yingchun, Lu Ting, Chen Jianfan, Li Meiyi, Xiong Jun, He Fei, Gan Zhongzhi, Guo Yingying, Zhang Leitao, Xiong Fu
Abstract excerpt
OBJECTIVES: Autosomal-dominant hypocalcification amelogenesis imperfecta (ADHCAI) is a hereditary disease characterized by enamel defects. ADHCAI is mainly caused by nonsense mutations in a gene called family with sequence similarity 83 member H (FAM83H). To study the pathogenesis of ADHCAI, a Chinese ADHCAI family was investigated. MATERIALS AND METHODS: The ultrastructure of enamel was analyzed by micro-CT and...
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