Article
Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population.
Scientific reports - 24 Aug 2018
Qin Litao, Lou Guiyu, Guo Liangjie, Zhang Yuwei, Wang Hongdan, Wang Li, Hou Qiaofang, Liu Hongyan, Li Xichuan, Liao Shixiu
Abstract excerpt
Congenital hand malformations is rare and characterized by hand deformities. It is highly heterogeneous, both clinically and genetically, which complicates the identification of causative genes and mutations. Recently, targeted next-generation (NGS) sequencing has been successfully used for the detection of heterogeneous diseases, and the use of NGS also has contributed significantly in evaluating the etiology of...
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