A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type

Clin Dysmorphol. 2020 Oct;29(4):186-188. doi: 10.1097/MCD.0000000000000330.
No abstract available

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Facies
  • Genetic Association Studies*
  • Humans
  • Male
  • Mandibulofacial Dysostosis / diagnosis*
  • Mandibulofacial Dysostosis / genetics*
  • Mutation*
  • Peptide Elongation Factors / genetics*
  • Phenotype*
  • Radiography
  • Ribonucleoprotein, U5 Small Nuclear / genetics*
  • Young Adult

Substances

  • EFTUD2 protein, human
  • Peptide Elongation Factors
  • Ribonucleoprotein, U5 Small Nuclear