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    Glossary Recessive Dystrophic Epidermolysis Bullosa

    genetic disorder causing extremely fragile, blistering skin from minor friction

    Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a severe genetic skin disorder characterized by extremely fragile skin that blisters and tears from minor friction or trauma. It is caused by mutations in the COL7A1 gene, which leads to a deficiency in type VII collagen, a protein essential for anchoring the layers of skin together.

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    1. No Evidence That Human Papillomavirus Is Responsible for the Aggressive Nature of Recessive Dystrophic Epidermolysis Bullosa–Associated Squamous Cell Carcinoma Journal of Investigative Dermatology · 2010 · 14 citations
    2. 519 Phase I/IIa clinical trial for recessive dystrophic epidermolysis bullosa using genetically corrected autologous keratinocytes 2017 · 5 citations
    3. CRISPR/Cas9-Mediated Generation of <i>COL7A1</i>-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa. PubMed · 2023 · 2 citations
    4. 572 Defining chronic wound types in recessive dystrophic epidermolysis bullosa patients for clinical outcome assessment Journal of Investigative Dermatology · 2018 · 2 citations
    5. Histological and molecular restoration of type VII collagen in Recessive dystrophic epidermolysis bullosa mouse skin by topical injection of keratinocyte-like cells differentiated from human adipose-derived mesenchymal stromal cells Journal of Dermatological Science · 2024 · 1 citations
    6. 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells Journal of Investigative Dermatology · 2019 · 1 citations
    7. 259 Scalp hair follicle dermal sheath fibroblasts express genes associated with promotion of skin integrity/wound healing and prevention of autoimmune responses in Recessive Dystrophic Epidermolysis Bullosa Journal of Investigative Dermatology · 2024
    8. Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa EMBO molecular medicine · 2024
    9. KASUS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA-MITIS YANG TERDIAGNOSIS PADA SAAT LANJUT USIA Media Dermato Venereologica Indonesiana · 2023
    10. CRISPR/Cas9-mediated Generation of<i>COL7A1</i>-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa bioRxiv (Cold Spring Harbor Laboratory) · 2023
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