Detection and characterization of low-level mosaicism among clinically unaffected parents of 'sporadic' epidermolysis bullosa simplex cases.
case_report · Level V
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- Record sourced from PubMed, PMID 35191026.
- Also identified by DOI 10.1111/bjd.21059.
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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.
Medical subject headings
- Epidermolysis Bullosa Simplex