Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome

Am J Med Genet A. 2015 Apr;167A(4):914-8. doi: 10.1002/ajmg.a.36948. Epub 2015 Mar 3.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging*
  • Abnormalities, Multiple / genetics
  • Child, Preschool
  • Codon, Nonsense
  • DNA Mutational Analysis
  • Exome
  • Female
  • Genetic Association Studies
  • Heterozygote
  • Humans
  • Male
  • Mandibulofacial Dysostosis / diagnostic imaging*
  • Mandibulofacial Dysostosis / genetics
  • Microcephaly / diagnostic imaging*
  • Microcephaly / genetics
  • Peptide Elongation Factors / genetics*
  • Radiography
  • Ribonucleoprotein, U5 Small Nuclear / genetics*
  • Syndrome

Substances

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