A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder

Clin Dysmorphol. 2020 Jul;29(3):161-164. doi: 10.1097/MCD.0000000000000316.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Gonads / embryology
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mosaicism / embryology*
  • Mutation
  • Mutation, Missense / genetics
  • Neurodevelopmental Disorders / genetics*
  • RNA Helicases / genetics*
  • RNA Helicases / metabolism

Substances

  • DHX30 protein, human
  • RNA Helicases