Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology
British Journal of Dermatology, 05/02/2012
Clements SE et al. – The study identifies specific changes in skin structural biology and signalling pathways that result from mutant p63 and provides new molecular insight into the ankyloblepharon–ectodermal defects–clefting (AEC) syndrome phenotype.
