An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation

Eur J Pediatr. 2005 Aug;164(8):530-1. doi: 10.1007/s00431-005-1680-5. Epub 2005 May 12.
No abstract available

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Cleft Lip / genetics
  • Cleft Palate / genetics
  • DNA-Binding Proteins
  • Ectodermal Dysplasia / diagnosis
  • Ectodermal Dysplasia / genetics*
  • Exons / genetics
  • Genes, Tumor Suppressor
  • Hand Deformities, Congenital / diagnosis
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Male
  • Mutation, Missense*
  • Phosphoproteins / genetics*
  • Pigmentation Disorders / complications
  • Pigmentation Disorders / diagnosis
  • Pigmentation Disorders / genetics*
  • Syndrome
  • Trans-Activators / genetics*
  • Transcription Factors
  • Tumor Suppressor Proteins

Substances

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