Article
Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes.
American journal of medical genetics. Part A - 1 Dec 2011
Serra Valeria, Castori Marco, Paradisi Mauro, Bui Laura, Melino Gerry, Terrinoni Alessandro
Abstract excerpt
Heterozygous mutations in TP63 cause a wide spectrum of autosomal dominant developmental disorders variably affecting skin, limbs, and face. TP63 encodes p63, a protein expressed in two main isoforms (Tap63 and ΔNp63) with critical roles in both cell differentiation and development. Some analyses suggest a relationship of the mutation site to the observed clinical picture, although this link is inconsistent. This...
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