Article
Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I.
Human mutation - 1 Jan 2017
Xiong Fu, Ji Zhisong, Liu Yanhui, Zhang Yu, Hu Lingling, Yang Qi, Qiu Qinwei, Zhao Lingfeng, Chen Dong, Tian Zhihui, Shang Xuan, Zhang Leitao, Wei Xiaofeng, Liu Cuixian, Yu Qiuxia, Zhang Meichao, Cheng Jing, Xiong Jun, Li Dongri, Wu Xiuhua, Yuan Huijun, Zhang Wenqing, Xu Xiangmin
Abstract excerpt
Dentin dysplasia type I (DDI) is an autosomal-dominant genetic disorder resulting from dentin defects. The molecular basis of DDI remains unclear. DDI exhibits unique characteristics with phenotypes featuring obliteration of pulp chambers and diminutive root, thus providing a useful model for understanding the genetics of tooth formation. Using a large Chinese family with 14 DDI patients, we mapped the gene locus...
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