A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance.

Autor: Bai RQ; Hunan Key Laboratory of Oral Health Research & Hunan 3D Printing Engineering Research Center of Oral Care & Hunan Clinical Research Center of Oral Major Diseases and Oral Health & Xiangya Stomatological Hospital & Xiangya School of Stomatology, Central South University, Changsha, Hunan, People's Republic of China., He WB; National Engineering and Research Center of Human Stem Cells, Changsha Hunan, People's Republic of China.; Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha, China.; Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-XIANGYA, Changsha, China.; Hunan International Scientific and Technological Cooperation base of Development and carcinogenesis, Changsha, China., Peng Q; Hunan Key Laboratory of Oral Health Research & Hunan 3D Printing Engineering Research Center of Oral Care & Hunan Clinical Research Center of Oral Major Diseases and Oral Health & Xiangya Stomatological Hospital & Xiangya School of Stomatology, Central South University, Changsha, Hunan, People's Republic of China., Shen SH; Hunan Key Laboratory of Oral Health Research & Hunan 3D Printing Engineering Research Center of Oral Care & Hunan Clinical Research Center of Oral Major Diseases and Oral Health & Xiangya Stomatological Hospital & Xiangya School of Stomatology, Central South University, Changsha, Hunan, People's Republic of China., Yu QQ; Hunan Key Laboratory of Oral Health Research & Hunan 3D Printing Engineering Research Center of Oral Care & Hunan Clinical Research Center of Oral Major Diseases and Oral Health & Xiangya Stomatological Hospital & Xiangya School of Stomatology, Central South University, Changsha, Hunan, People's Republic of China., Du J; National Engineering and Research Center of Human Stem Cells, Changsha Hunan, People's Republic of China.; Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha, China.; Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-XIANGYA, Changsha, China.; Hunan International Scientific and Technological Cooperation base of Development and carcinogenesis, Changsha, China., Tan YQ; National Engineering and Research Center of Human Stem Cells, Changsha Hunan, People's Republic of China.; Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha, China.; Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-XIANGYA, Changsha, China.; Hunan International Scientific and Technological Cooperation base of Development and carcinogenesis, Changsha, China., Wang YH; Hunan Key Laboratory of Oral Health Research & Hunan 3D Printing Engineering Research Center of Oral Care & Hunan Clinical Research Center of Oral Major Diseases and Oral Health & Xiangya Stomatological Hospital & Xiangya School of Stomatology, Central South University, Changsha, Hunan, People's Republic of China., Liu BJ; Hunan Key Laboratory of Oral Health Research & Hunan 3D Printing Engineering Research Center of Oral Care & Hunan Clinical Research Center of Oral Major Diseases and Oral Health & Xiangya Stomatological Hospital & Xiangya School of Stomatology, Central South University, Changsha, Hunan, People's Republic of China.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Apr; Vol. 10 (4), pp. e1902. Date of Electronic Publication: 2022 Feb 25.