Genetic Reversion via Mitotic Recombination in Ichthyosis with Confetti due to a KRT10 Polyalanine Frameshift Mutation

J Invest Dermatol. 2016 Aug;136(8):1725-1728. doi: 10.1016/j.jid.2016.04.023. Epub 2016 May 18.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Epidermis / pathology
  • Frameshift Mutation / genetics
  • Humans
  • Ichthyosiform Erythroderma, Congenital / genetics*
  • Ichthyosiform Erythroderma, Congenital / pathology
  • Keratin-10 / genetics*
  • Male
  • Mitosis / genetics*
  • Peptides / genetics
  • Recombination, Genetic*

Substances

  • KRT10 protein, human
  • Peptides
  • Keratin-10
  • polyalanine