Occurrence of complete arhinia in two siblings with a clinical picture of Treacher Collins syndrome negative for TCOF1, POLR1D and POLR1C mutations

Clin Dysmorphol. 2011 Oct;20(4):229-231. doi: 10.1097/MCD.0b013e3283491725.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Congenital Abnormalities / diagnosis*
  • Congenital Abnormalities / genetics*
  • DNA-Directed RNA Polymerases / genetics*
  • Exons
  • Female
  • Humans
  • Introns
  • Karyotype
  • Male
  • Mandibulofacial Dysostosis / diagnosis*
  • Mandibulofacial Dysostosis / genetics*
  • Nose / abnormalities
  • Nuclear Proteins / genetics*
  • Phenotype*
  • Phosphoproteins / genetics*
  • Siblings

Substances

  • Nuclear Proteins
  • Phosphoproteins
  • TCOF1 protein, human
  • DNA-Directed RNA Polymerases
  • POLR1C protein, human
  • POLR1D protein, human

Supplementary concepts

  • Arrhinia