Article
Haplotype-based non-invasive prenatal diagnosis of recessive dystrophic epidermolysis bullosa via targeted capture sequencing of maternal plasma.
The Journal of dermatology - 1 Jul 2023
Wang Jianbo, Gao Pengfei, Cao Qiaoyu, Chen Fuying, Song Jinghui, Wang Chen, Dou Jinfa, Wu Yiming, Niu Qiaona, Li Jianguo, Li Ming, Lu Daru
Abstract excerpt
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and severe hereditary skin disease, caused by mutations in the COL7A1. However, whether non-invasive prenatal testing (NIPT) can be used for this monogenic genodermatosis remains unknown. Accordingly, we conducted a study in which one couple at high risk of having a fetus with RDEB were recruited and tested by haplotyping-based NIPT. Next-generation...
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