Article
Recent advances in understanding and managing epidermolysis bullosa
2018-07-17
Abstract excerpt
Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous skin fragility disorder characterized by trauma-induced skin dissociation and the development of painful wounds. So far, mutations in 20 genes have been described as being associated with more than 30 clinical EB subtypes. The era of whole-exome sequencing has revolutionized EB diagnostics with gene panels being developed in several EB center...
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Identifiers and source
- Literature Corpus work
- 241e8466-6e05-50a5-86f2-28dc377122f0
- DOI
- 10.12688/f1000research.14974.1