Response to correspondence to Hale et al. atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria

Am J Med Genet A. 2016 Dec;170(12):3367-3368. doi: 10.1002/ajmg.a.37629. Epub 2016 Mar 21.
No abstract available

Publication types

  • Letter

MeSH terms

  • CHARGE Syndrome / diagnosis
  • CHARGE Syndrome / genetics*
  • DNA Helicases / genetics*
  • DNA-Binding Proteins / genetics*
  • Phenotype

Substances

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