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STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity.

Ivo F NagtzaamFrank S van LeersumLaurie C M KouwenbergMarinus J BlokMaaike VreeburgPeter M SteijlenAntoni H GostyńskiMichel van Geel
Published in: The British journal of dermatology (2022)
Keyphrases
  • copy number
  • case report
  • single cell
  • genome wide
  • pulmonary embolism