Article
The Modified Shields Classification and 12 Families with Defined DSPP Mutations.
Genes - 12 May 2022
Simmer James P, Zhang Hong, Moon Sophie J H, Donnelly Lori A-J, Lee Yuan-Ling, Seymen Figen, Koruyucu Mine, Chan Hui-Chen, Lee Kevin Y, Wu Suwei, Hsiang Chia-Lan, Tsai Anthony T P, Slayton Rebecca L, Morrow Melissa, Wang Shih-Kai, Shields Edward D, Hu Jan C-C
Abstract excerpt
Mutations in Dentin Sialophosphoprotein (DSPP) are known to cause, in order of increasing severity, dentin dysplasia type-II (DD-II), dentinogenesis imperfecta type-II (DGI-II), and dentinogenesis imperfecta type-III (DGI-III). DSPP mutations fall into two groups: a 5′-group that affects protein targeting and a 3′-group that shifts translation into the −1 reading frame. Using whole-exome sequence (WES) analyses...
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