Article
A splicing mutation in VPS4B causes dentin dysplasia I.
Journal of medical genetics - 1 Sept 2016
Yang Qi, Chen Dong, Xiong Fu, Chen Danna, Liu Cuixian, Liu Yanhui, Yu Qiuxia, Xiong Jun, Liu Jinzhong, Li Kunyang, Zhao Lingfeng, Ye Yuhua, Zhou Hong, Hu Lingling, Tian Zhihui, Shang Xuan, Zhang Leitao, Wei Xiaofeng, Zhou Wanjun, Li Dongri, Zhang Wenqing, Xu Xiangmin
Abstract excerpt
BACKGROUND: Dentin dysplasia I (DDI) is a genetically heterogeneous autosomal-dominant disorder characterised by rootless teeth with abnormal pulpal morphology, the aetiology of which presents as genetically heterogeneous. METHODS AND RESULTS: Using a cohort of a large Chinese family with 10 patients with DDI, we mapped to a 9.63 Mb candidate region for DDI on chromosome 18q21.2-q21.33. We then identified a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.