Genetic diagnosis of a rare COL7A1 variant causing dystrophic epidermolysis bullosa pruriginosa through whole ‑exome sequencing

In conclusion, the present study provides evidence for the involvement of the COL7A1 G2287R gene variant in the development of DEB-Pr and highlights the potential utility of cfDNA in genetic disease diagnosis.PMID:37822584 | PMC:PMC10562958 | DOI:10.3892/etm.2023.12201

Source: Experimental and Therapeutic Medicine - October 12, 2023 Category: General Medicine Authors: Yanhui Yang Yangmin Gao Mengna Zhang Hua Qian Ke Zhao Weijuan Wang Yanxiu Ma Dan Zhang Xiaoguang Li Fengming Hu Xiaoming Sun Source Type: research