Phenotypic and molecular description of an individual with a disruptive variant in the SULF2 gene

Clin Dysmorphol. 2020 Jul;29(3):144-147. doi: 10.1097/MCD.0000000000000309.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Failure to Thrive / genetics*
  • Failure to Thrive / physiopathology
  • Humans
  • Infant
  • Male
  • Sulfatases / genetics*
  • Sulfatases / metabolism
  • Sulfotransferases / genetics
  • Sulfotransferases / metabolism

Substances

  • SULF1 protein, human
  • Sulfotransferases
  • SULF2 protein, human
  • Sulfatases