Two Novel Cases of Autosomal Recessive Noonan Syndrome Associated With LZTR1 Variants

Rev Esp Cardiol (Engl Ed). 2019 Nov;72(11):978-980. doi: 10.1016/j.rec.2019.05.002. Epub 2019 Jun 8.
[Article in English, Spanish]
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Electrocardiography
  • Humans
  • Infant, Newborn
  • Male
  • Mutation*
  • Noonan Syndrome / diagnosis
  • Noonan Syndrome / genetics*
  • Noonan Syndrome / metabolism
  • Pedigree
  • Phenotype
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism

Substances

  • LZTR1 protein, human
  • Transcription Factors