The report of two cases with multiple sulfatase deficiency resulting from a rare similar gene mutation

Int J Dermatol. 2018 Oct;57(10):1242-1245. doi: 10.1111/ijd.13948. Epub 2018 Feb 26.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Male
  • Multiple Sulfatase Deficiency Disease / complications*
  • Multiple Sulfatase Deficiency Disease / genetics*
  • Mutation, Missense
  • Oxidoreductases Acting on Sulfur Group Donors
  • Skin Diseases / etiology
  • Sulfatases / genetics*

Substances

  • Oxidoreductases Acting on Sulfur Group Donors
  • SUMF1 protein, human
  • Sulfatases