Heterozygous nonsense variant of CHD8 in a patient with forme-fruste Marfan syndrome and intellectual disability

Congenit Anom (Kyoto). 2021 Jan;61(1):30-32. doi: 10.1111/cga.12393. Epub 2020 Oct 1.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Codon, Nonsense*
  • DNA-Binding Proteins / genetics*
  • Facies
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Growth Charts
  • Heterozygote*
  • Humans
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics*
  • Marfan Syndrome / diagnosis*
  • Marfan Syndrome / genetics*
  • Phenotype
  • Transcription Factors / genetics*
  • Young Adult

Substances

  • CHD8 protein, human
  • Codon, Nonsense
  • DNA-Binding Proteins
  • Transcription Factors