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Epidermolysis bullosa (E 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 simplex (EBS), with clinical manifestation, including blisters and erosions on the soles of the feet since infancy. To identify and confirm the genetic variation in a Chinese family diagnosed as localized EBS. Our study included two patients, other healt
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