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    1. A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report BMC dermatology · 2018 · 18 citations
    2. 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation 2022
    3. Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa Pediatric dermatology · 2023
    4. 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin Journal of Investigative Dermatology · 2023
    5. Pathogenesis and clinical features of alopecia in epidermolysis bullosa: A systematic review Pediatric Dermatology · 2019
    6. Inherited epidermolysis bullosa: clinical and therapeutic aspects Anais Brasileiros de Dermatologia · 2013 · 32 citations
    7. Epidermolysis bullosa in animals: a review Veterinary Dermatology · 2014 · 33 citations
    8. Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata) Journal of Cutaneous Pathology · 2025
    9. First symposium on natural gene therapy of the skin Experimental dermatology · 2012 · 9 citations
    10. Dermatopathology and molecular genetics Journal of The American Academy of Dermatology · 2008 · 12 citations
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    Community 1 of 3

    1. What is up with all these body dysmorphic posts lately? Reddit · 22 Mar 2025
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