P63 mutations are not a major cause of non-syndromic split hand/foot malformation

J Med Genet. 2003 Jan;40(1):55-61. doi: 10.1136/jmg.40.1.55.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • DNA Mutational Analysis / methods
  • DNA-Binding Proteins
  • Female
  • Foot Deformities, Congenital / genetics*
  • Genes, Tumor Suppressor
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Infant
  • Male
  • Membrane Proteins*
  • Mutation / genetics*
  • Pedigree
  • Phosphoproteins / genetics*
  • 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

Associated data

  • OMIM/119100
  • OMIM/129900
  • OMIM/183600
  • OMIM/305600