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A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in KRT5
Epidermolysis bullosa simplex is a disease that belongs to a group of genodermatoses characterised by the formation of superficial bullous lesions caused by minor mechanical trauma to the skin. The skin fragility observed in the EBS is mainly caused by pathogenic variants in the KRT5 and KRT14 genes...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535670/ https://www.ncbi.nlm.nih.gov/pubmed/34680898 http://dx.doi.org/10.3390/genes12101503 |