Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient

Acta Derm Venereol. 2018 Aug 29;98(8):803-804. doi: 10.2340/00015555-2957.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • DNA Mutational Analysis
  • Fatty Acid Transport Proteins / genetics*
  • Genetic Predisposition to Disease
  • Homozygote*
  • Humans
  • Ichthyosis / diagnosis
  • Ichthyosis / genetics*
  • Ichthyosis / therapy
  • Infant
  • Infant, Newborn
  • Infant, Premature, Diseases / diagnosis
  • Infant, Premature, Diseases / genetics*
  • Infant, Premature, Diseases / therapy
  • Italy
  • Male
  • Mutation*
  • Phenotype

Substances

  • Fatty Acid Transport Proteins
  • SLC27A4 protein, human

Supplementary concepts

  • Ichthyosis prematurity syndrome