Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis

Br J Dermatol. 2014 Apr;170(4):980-2. doi: 10.1111/bjd.12757.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Female
  • Heterozygote
  • Homozygote
  • Humans
  • Ichthyosis, Lamellar / genetics*
  • Lipase / genetics*
  • Male
  • Mutation, Missense / genetics*

Substances

  • Lipase
  • PNPLA1 protein, human