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A Sporadic Neonatal Case of Epidermolysis Bullosa Simplex Generalized Intermediate with KRT5 and KRT14 Gene Mutations
Background Epidermolysis bullosa simplex (EBS) is a rare genodermatosis resulting from multiple gene mutations, including KRT5 and KRT14. The clinical expression of the mechanobullous skin fragility disease has not been fully explained by the genotype. Case Description An 11-day-old Japanese newborn...
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| Udgivet i: | AJP Rep |
|---|---|
| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Thieme Medical Publishers
2016
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4769090/ https://ncbi.nlm.nih.gov/pubmed/26929861 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0035-1570386 |
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