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A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma

  • Author(s): Calì, Francesco
  • Failla, Pinella
  • Vinci, Mirella
  • Siragusa, Maddalena
  • Schepis, Carmelo
  • et al.
Abstract

We report a 6-year-old girl showing epidermolytic ichthyosis/epidermolytic hyperkeratosis (EI/EH). Targeted Next Generation Sequencing revealed a de novo, previously unidentified KRT1 mutation. The findings of this study expands the clinical and  spectrum and genotype-phenotype correlation associated with EI/EH.

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