A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema
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DOI: 10.1111/pde.14087
Abstract: Epidermolysis bullosa simplex migratory circinate erythema (EBS‐Migr) is an uncommon subtype of EBS. We report a case of EBS‐MIGR with a novel heterozygous pathogenic mutation in exon 9 (frameshift deletion c.1650delC) and likely benign heterozygous… read more here.
Keywords: circinate erythema; migratory circinate; simplex migratory; bullosa simplex ... See more keywords