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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Detalles Bibliográficos
Autores principales: Serra, Valeria, Castori, Marco, Paradisi, Mauro, Bui, Laura, Melino, Gerry, Terrinoni, Alessandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2011
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306552/
https://www.ncbi.nlm.nih.gov/pubmed/22069181
http://dx.doi.org/10.1002/ajmg.a.34335

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306552/
https://www.ncbi.nlm.nih.gov/pubmed/22069181
http://dx.doi.org/10.1002/ajmg.a.34335

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