Complete DiGeorge syndrome associated with CHD7 mutation

J Allergy Clin Immunol. 2007 Oct;120(4):952-4. doi: 10.1016/j.jaci.2007.08.013.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics
  • Coloboma / genetics
  • DNA Helicases / genetics*
  • DNA-Binding Proteins / genetics*
  • DiGeorge Syndrome / genetics*
  • Female
  • Heart Defects, Congenital / genetics
  • Humans
  • Infant
  • Mutation*

Substances

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