Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome

Clin Genet. 2009 Mar;75(3):290-3. doi: 10.1111/j.1399-0004.2008.01127.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology*
  • Base Sequence
  • Child, Preschool
  • DNA Helicases / genetics*
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Female
  • Heart Defects, Congenital / genetics
  • Humans
  • Intellectual Disability / genetics
  • Korea
  • Male
  • Molecular Sequence Data
  • Syndrome

Substances

  • DNA-Binding Proteins
  • DNA Helicases
  • CHD7 protein, human