A novel STS mutation and an Xp22.31 microdeletion in a Chinese family with X-linked ichthyosis

Clin Exp Dermatol. 2021 Apr;46(3):614-617. doi: 10.1111/ced.14525. Epub 2020 Dec 17.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • China
  • Chromosomes, Human, X / genetics
  • Codon, Nonsense*
  • Female
  • Gene Deletion
  • Gene Duplication
  • Humans
  • Ichthyosis, X-Linked / genetics*
  • Male
  • Pedigree
  • Steryl-Sulfatase / genetics*

Substances

  • Codon, Nonsense
  • STS protein, human
  • Steryl-Sulfatase

Associated data

  • RefSeq/NM_000351