Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

Br J Dermatol. 2015 Nov;173(5):1291-4. doi: 10.1111/bjd.13895. Epub 2015 Aug 22.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Female
  • Frameshift Mutation / genetics*
  • Humans
  • Ichthyosis, Lamellar / genetics*
  • Keratoderma, Palmoplantar / genetics*
  • Male
  • Membrane Proteins / genetics*
  • Pedigree

Substances

  • Membrane Proteins
  • loricrin