Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation

Am J Med Genet A. 2008 Oct 1;146A(19):2574-7. doi: 10.1002/ajmg.a.32415.
No abstract available

Publication types

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

MeSH terms

  • Congenital Abnormalities / genetics*
  • Ectromelia / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Membrane Proteins / genetics*
  • Mosaicism*
  • Mutation*
  • Phenotype

Substances

  • CKAP4 protein, human
  • Membrane Proteins