A novel TP63 mutation in family with ADULT syndrome presenting with eczema and hypothelia

Am J Med Genet A. 2009 Jul;149A(7):1558-60. doi: 10.1002/ajmg.a.32881.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Breast Diseases / complications
  • Breast Diseases / congenital
  • Breast Diseases / diagnosis
  • Child
  • Eczema / complications
  • Eczema / diagnosis*
  • Eczema / genetics
  • Family
  • Female
  • Humans
  • Lacrimal Apparatus Diseases / complications
  • Lacrimal Apparatus Diseases / diagnosis
  • Lacrimal Apparatus Diseases / genetics
  • Mutation
  • Nipples / abnormalities*
  • Syndrome
  • Tooth Abnormalities / complications
  • Tooth Abnormalities / diagnosis*
  • Tooth Abnormalities / genetics
  • Trans-Activators / genetics*
  • Transcription Factors
  • Tumor Suppressor Proteins / genetics*

Substances

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