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A Novel COL7A1 Mutation in a Patient With Dystrophic Epidermolysis Bullosa. Successful Treatment With Upadacitinib
Published 2025-01-01“…Shuqin Lai,* Chunli Lin,* Zimeng Guo, Yun Lai, Ling Xie, Chunlei Wan, Tao Yang, Longnian Li Department of Dermatology, Candidate Branch of National Clinical Research Centre for Skin and Immune Diseases, First Affiliated Hospital of Gannan Medical University, Ganzhou, 341000, People’s Republic of China*These authors contributed equally to this workCorrespondence: Tao Yang; Longnian Li, Department of Dermatology, Candidate Branch of National Clinical Research Centre for Skin and Immune Diseases, First Affiliated Hospital of Gannan Medical University, Ganzhou, 341000, People’s Republic of China, Email danny20021068@126.com; li_longnian@foxmail.comAbstract: Dystrophic epidermolysis bullosa (DEB) is a heterogeneous and rare genetic skin disease caused by mutations in the COL7A1 gene, which encodes Type VII collagen. …”
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