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A Novel Mutation p.L461P in KRT5 Causing Localized Epidermolysis Bullosa Simplex
BACKGROUND: Epidermolysis bullosa (EB) is a rare genetic disease with widely different clinical manifestations, but the relationship between genotype and phenotype is not fully understood. In the present study, we recruited a Chinese family in which two members had been diagnosed with localized EB s...
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| Publicado no: | Ann Dermatol |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Korean Dermatological Association; The Korean Society for Investigative Dermatology
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7875216/ https://ncbi.nlm.nih.gov/pubmed/33911807 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5021/ad.2021.33.1.11 |
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