ArticleExperimental and therapeutic medicine2022
Diverse clinical and genetic characteristics of six cases of inherited epidermolysis bullosa.
Article in Experimental and therapeutic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.Molecular medicine reports · 2024Article
- Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa.Anais brasileiros de dermatologiaArticle
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5 authors.
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Abstract
Inherited epidermolysis bullosa (IEB) represents a group of rare genetic dermatoses comprising various phenotypes ranging from severe cutaneous and extracutaneous involvement to mild cutaneous fragility. Pathogenic variants have been identified in at least 20 genes responsible for IEB. In the present study, six cases of epidermolysis bullosa were recruited and subjected to a combination of clinical and genetic analysis. The family history of each case was surveyed. Whole exome sequencing was performed to identify the causative variation. The six patients showed typical EB symptoms. In all cases, WES detected the diagnostic variations of the
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