4.6 Letter

Detection and characterization of low-level mosaicism among clinically unaffected parents of 'sporadic' epidermolysis bullosa simplex cases

Journal

BRITISH JOURNAL OF DERMATOLOGY
Volume 187, Issue 3, Pages 441-443

Publisher

WILEY
DOI: 10.1111/bjd.21059

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Funding

  1. Debra Shanghai [DebraSH20201230]

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This study reports for the first time the proportion of low-level mosaicism in clinically unaffected parents, whose children were previously regarded as sporadic EBS cases.
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.

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