AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome

Eur J Med Genet. 2006 Nov-Dec;49(6):520-2. doi: 10.1016/j.ejmg.2006.05.003. Epub 2006 Jun 30.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Cleft Lip / genetics
  • Cleft Palate / genetics
  • DNA-Binding Proteins / genetics
  • Ectodermal Dysplasia / genetics
  • Eyelids / abnormalities*
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Point Mutation
  • Syndrome
  • Trans-Activators / genetics
  • Transcription Factors
  • Tumor Suppressor Proteins / genetics

Substances

  • DNA-Binding Proteins
  • TP63 protein, human
  • Trans-Activators
  • Transcription Factors
  • Tumor Suppressor Proteins