Article
A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II.
Mutation research - 9 Mar 2009
Wang HaoYang, Hou YanNing, Cui YingXia, Huang YuFeng, Shi YiChao, Xia XinYi, Lu HongYong, Wang YunHua, Li XiaoJun
Abstract excerpt
Twenty-four individuals were investigated that spanned six generations in a Chinese family affected with an apparently autosomal dominant form of dentinogenesis imperfecta type II (DGI-II, OMIM #125490). All affected individuals presented with typical, clinical and radiographic features of DGI-II, but without bilateral progressive high-frequency sensorineural hearing loss. To investigate the mutated molecule, a...
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