Novel frameshift mutation in the CHD7 gene associated with CHARGE syndrome with preaxial polydactyly

Clin Dysmorphol. 2016 Jul;25(3):98-100. doi: 10.1097/MCD.0000000000000120.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • CHARGE Syndrome / diagnosis*
  • CHARGE Syndrome / genetics*
  • CHARGE Syndrome / surgery
  • DNA Helicases / genetics*
  • DNA-Binding Proteins / genetics*
  • Fatal Outcome
  • Female
  • Frameshift Mutation*
  • Humans
  • Infant, Newborn
  • Phenotype*
  • Polydactyly / genetics*
  • Pregnancy
  • Prenatal Diagnosis
  • Tomography, X-Ray Computed

Substances

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