Identification of a Mosaic Activating Mutation in GNA11 in Atypical Sturge-Weber Syndrome

J Invest Dermatol. 2021 Mar;141(3):685-688. doi: 10.1016/j.jid.2020.03.978. Epub 2020 Aug 7.
No abstract available

Publication types

  • Letter
  • Observational Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Brain / pathology
  • Child, Preschool
  • DNA Mutational Analysis
  • Exome Sequencing
  • Female
  • GTP-Binding Protein alpha Subunits / genetics*
  • Gain of Function Mutation
  • Humans
  • Male
  • Middle Aged
  • Mosaicism
  • Skin / pathology
  • Sturge-Weber Syndrome / blood
  • Sturge-Weber Syndrome / genetics*
  • Sturge-Weber Syndrome / pathology
  • Young Adult

Substances

  • GNA11 protein, human
  • GTP-Binding Protein alpha Subunits