Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance

Front Med. 2023 Oct;17(5):1006-1009. doi: 10.1007/s11684-023-1000-3. Epub 2023 Jul 29.
No abstract available

Publication types

  • Letter

MeSH terms

  • DNA-Binding Proteins / genetics
  • Goldenhar Syndrome*
  • Humans
  • Mutation
  • Peptide Elongation Factors / genetics
  • Phenotype
  • Protein Tyrosine Phosphatases / genetics
  • Ribonucleoprotein, U5 Small Nuclear / genetics

Substances

  • EYA3 protein, human
  • DNA-Binding Proteins
  • Protein Tyrosine Phosphatases
  • EFTUD2 protein, human
  • Peptide Elongation Factors
  • Ribonucleoprotein, U5 Small Nuclear