Clinical utility gene card: for incontinentia pigmenti

Eur J Hum Genet. 2019 Dec;27(12):1894-1900. doi: 10.1038/s41431-019-0463-9. Epub 2019 Jul 9.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Disorders of Sex Development / diagnosis*
  • Disorders of Sex Development / genetics
  • Disorders of Sex Development / physiopathology
  • Female
  • Genes, X-Linked / genetics
  • Genetic Testing*
  • Genotype
  • Humans
  • I-kappa B Kinase / genetics*
  • Incontinentia Pigmenti / diagnosis*
  • Incontinentia Pigmenti / genetics
  • Incontinentia Pigmenti / physiopathology
  • Loss of Function Mutation / genetics

Substances

  • IKBKG protein, human
  • I-kappa B Kinase