Gene symbol: CHD7. Disease: CHARGE syndrome.
Ellison
Jay
J
Mayo Clinic, Medical Genetics, 200 First St SW, Rochester, MN 55905, USA. ellison.jay@mayo.edu
D000015:Abnormalities, Multiple / Q000235:genetics*; D019943:Amino Acid Substitution; D002754:Choanal Atresia / Q000235:genetics*; D003062:Codon / Q000235:genetics*; D018389:Codon, Nonsense; D018388:Codon, Terminator; D004265:DNA Helicases / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D017354:Point Mutation; D013577:Syndrome
D003062:Codon; D018389:Codon, Nonsense; D018388:Codon, Terminator; D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human