Genetic analysis and prenatal diagnosis of recessive dystrophic epidermolysis bullosa caused by compound heterozygous variants of the COL7A1 gene in a Chinese family

• Κύριοι συγγραφείς: Yu Wang (Συγγραφέας), Zhen Song (Συγγραφέας), Lihua Zhang (Συγγραφέας), Na Li (Συγγραφέας), Jie Zhao (Συγγραφέας), Ruifang Yang (Συγγραφέας), Shuhua Ji (Συγγραφέας), Ping Sun (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: Frontiers Media S.A., 2022-11-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: Connect to this object online.

BackgroundDystrophic epidermolysis bullosa (DEB) is an incurable and inherited skin disorder mainly caused by mutations in the gene encoding type VII collagen (COL7A1). The purpose of this study was to identify the causative genetic variants and further perform genetic diagnosis in a Chinese family...