Localized variant of junctional epidermolysis bullosa with R795X mutation
Epidermolysis bullosa (EB) refers to a group of inherited disorders characterized by skin and mucous membrane fragility. This report presents the case of a 61-year-old Italian male with a localized variant of junctional epidermolysis bullosa (JEB) linked to the R795X mutation in the COL17A1 gene. Th...
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| Principais autores: | , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
PAGEPress Publications
2025-01-01
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| Serija: | Dermatology Reports |
| Teme: | |
| Online dostop: | https://www.pagepress.org/journals/dr/article/view/10127 |
| Oznake: |
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