Article
Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population.
Clinical genetics - 1 Aug 2020
Chen Fuying, Huang Linting, Li Changcan, Zhang Jia, Yang Weiqin, Zhang Beibei, Li Huaguo, Deng Dan, Liang Jianying, Shen Jinwen, Yao Zhirong, Li Ming
Abstract excerpt
Epidermolysis bullosa (EB) is a heritable blistering disorder. We performed a next-generation sequencing-based multigene panel test and successfully predicted 100% of the EB types, including, 36 EB simplex (EBS), 13 junctional EB (JEB), 86 dystrophic EB (DEB), and 3 Kindler EB. Chinese JEB and recessive DEB (RDEB) patients have relatively mild phenotypes; for severe type separately accounts for 45.5% and 23.8%,...
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