25

Pattern of p63 mutations and their phenotypes—update Ectodermal dysplasia (ED) combined with orofacial clefting and limb malformations are the three hallmarks of p63 syndrome family. EEC, the prototype of these syndromes combines all three main symptoms, whereas the others lack mainly one of the hallmarks. LMS falls into a borderline expressing less ectodermal signs than EEC. ED and orofacial clefting are main symptoms in AEC and RHS, whereas limb malformations replace the orofacial clefting symptoms in ADULT syndrome. © This slide is made available for non-commercial use only. Please note that permission may be required for re-use of images in which the copyright is owned by a third party. American Journal of Medical Genetics Part A Volume 140A, Issue 13, pages 1396-1406, 11 MAY 2006 DOI: 10.1002/ajmg.a.31271 http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.31271/full#fig1 28

Tutti gli epiteli stratificati (Epidermide, Cornea, Prostata, Mammella, Vescica, etch) sono colpiti nei topi p63 KO.

DNp63 TAp63

? ? ?

DNp63 TAp63 TAp63