A Novel COL7A1 Frameshift Variant Affecting Glu2857 in Two Sisters With Intermediate Recessive Dystrophic Epidermolysis Bullosa.
Morisaka H, Mori S, Akome J, Tonomura K, Matsumura Y, Akasaka E, Sawamura D, Fujimoto M, Tamai K
Journal of DermatologyIn the feed 4 Oct 2026, published online 4 Oct 2026, issue 2026 Oct 04, added to PubMed 4 Oct 2026
Topics: Genetic skin disease
Abstract
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PMID 42830220 · DOI 10.1111/1346-8138.70525