Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation

Br J Dermatol. 2017 Jul;177(1):319-322. doi: 10.1111/bjd.15570. Epub 2017 Jun 7.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Child
  • Child, Preschool
  • Female
  • Heterozygote
  • Homozygote
  • Humans
  • Ichthyosis / genetics*
  • Infant
  • Lipase / genetics*
  • Male
  • Middle Aged
  • Mutation, Missense / genetics*
  • Pedigree
  • Phenotype
  • Young Adult

Substances

  • Lipase
  • PNPLA1 protein, human