GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of Gα/11 Mosaicism and the Associated Clinical Diagnoses

J Invest Dermatol. 2020 May;140(5):1110-1113. doi: 10.1016/j.jid.2019.10.019. Epub 2019 Dec 12.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Capillaries / abnormalities
  • Child
  • Child, Preschool
  • Cohort Studies
  • Female
  • GTP-Binding Protein alpha Subunits / genetics*
  • Genetic Association Studies
  • Genotype*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mosaicism
  • Mutation / genetics*
  • Phenotype
  • Prospective Studies
  • Protein Domains / genetics*
  • Skin / metabolism*
  • Skin / pathology
  • Skin Pigmentation
  • Sturge-Weber Syndrome / diagnosis
  • Sturge-Weber Syndrome / genetics*
  • Vascular Malformations

Substances

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

Supplementary concepts

  • Capillary Malformations, Congenital, 1