Expanding the "E" in CHARGE

Am J Med Genet A. 2008 Jul 15;146A(14):1890-2. doi: 10.1002/ajmg.a.32376.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Base Sequence
  • Choanal Atresia / genetics
  • Consanguinity
  • DNA / genetics
  • DNA Helicases / genetics
  • DNA-Binding Proteins / genetics
  • Developmental Disabilities / genetics
  • Ear / abnormalities
  • Female
  • Heart Defects, Congenital / genetics
  • Heterozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Point Mutation
  • Pregnancy
  • Syndrome
  • Tibia / abnormalities*

Substances

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