Novel compound heterozygous FATP4 mutations caused ichthyosis prematurity syndrome in Spanish sisters

Acta Paediatr. 2019 Apr;108(4):763-765. doi: 10.1111/apa.14694. Epub 2019 Feb 1.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Fatty Acid Transport Proteins / genetics*
  • Female
  • Heterozygote
  • Humans
  • Ichthyosis / genetics*
  • Infant, Premature, Diseases / genetics*
  • Mutation*
  • Pedigree
  • Spain

Substances

  • Fatty Acid Transport Proteins
  • SLC27A4 protein, human

Supplementary concepts

  • Ichthyosis prematurity syndrome