Functional Characterization of a Novel TP63 Mutation in a Family With Overlapping Features of Rapp-Hodgkin/AEC/ADULT Syndromes

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 su...

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Главные авторы: Serra, Valeria, Castori, Marco, Paradisi, Mauro, Bui, Laura, Melino, Gerry, Terrinoni, Alessandro
Формат: Artigo
Язык:Inglês
Опубликовано: Wiley Subscription Services, Inc., A Wiley Company 2011
Предметы:
Clinical Reports
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3306552/
https://ncbi.nlm.nih.gov/pubmed/22069181
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34335
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