A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome

Clin Genet. 2001 Oct;60(4):314-5. doi: 10.1034/j.1399-0004.2001.600411.x.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Substitution / genetics
  • Asian People / genetics
  • Cleft Lip / genetics
  • Cleft Palate / genetics
  • DNA-Binding Proteins
  • Ectodermal Dysplasia / genetics*
  • Female
  • Foot Deformities, Congenital / genetics
  • Genes, Tumor Suppressor
  • Hand Deformities, Congenital / genetics
  • Humans
  • Infant, Newborn
  • Membrane Proteins*
  • Mutation, Missense / genetics*
  • Phosphoproteins / genetics*
  • Polymerase Chain Reaction
  • Syndrome
  • Trans-Activators / genetics*
  • Transcription Factors
  • Tumor Suppressor Proteins

Substances

  • CKAP4 protein, human
  • DNA-Binding Proteins
  • Membrane Proteins
  • Phosphoproteins
  • TP63 protein, human
  • Trans-Activators
  • Transcription Factors
  • Tumor Suppressor Proteins