Article
Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease.
Clinical genetics - 1 Mar 2020
Ye Qing, Shen Qian, Rao Jia, Zhang Aihua, Zheng Bixia, Liu Xiaorong, Shen Ying, Chen Zhi, Wu Yubing, Hou Ling, Jian Shan, Wei Min, Ma Mingsheng, Sun Shuzhen, Li Qian, Dang Xiqiang, Wang Ying, Xu Hong, Mao Jianhua
Abstract excerpt
Dent disease is a rare X-linked recessive inherited tubular disease. In this multicenter study, the clinical presentation and genetic background of Chinese children with Dent disease are studied to improve the cognition and diagnostic ability of pediatricians. In this prospective cohort, we described the genotype and phenotype of a national cohort composed of 45 pediatric probands with Dent disease belonging to...
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