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Detection and characterization of low‐level mosaicism among clinically unaffected parents of 'sporadic' epidermolysis bullosa simplex cases. (3rd June 2022)
Record Type:
Journal Article
Title:
Detection and characterization of low‐level mosaicism among clinically unaffected parents of 'sporadic' epidermolysis bullosa simplex cases. (3rd June 2022)
Main Title:
Detection and characterization of low‐level mosaicism among clinically unaffected parents of 'sporadic' epidermolysis bullosa simplex cases
Abstract : In this study, two (18.2%) clinically unaffected parents from 11 trios were identified with mosaic KRT14 variants.To our knowledge, this is the first report to study the proportion of low‐level mosaicism in the clinically unaffected parents whose children were previously regarded as sporadic EBS cases.