Article
A regulatory feedback loop involving p63 and IRF6 links the pathogenesis of 2 genetically different human ectodermal dysplasias.
The Journal of clinical investigation - 1 May 2010
Moretti Francesca, Marinari Barbara, Lo Iacono Nadia, Botti Elisabetta, Giunta Alessandro, Spallone Giulia, Garaffo Giulia, Vernersson-Lindahl Emma, Merlo Giorgio, Mills Alea A, Ballarò Costanza, Alemà Stefano, Chimenti Sergio, Guerrini Luisa, Costanzo Antonio
Abstract excerpt
The human congenital syndromes ectrodactyly ectodermal dysplasia-cleft lip/palate syndrome, ankyloblepharon ectodermal dysplasia clefting, and split-hand/foot malformation are all characterized by ectodermal dysplasia, limb malformations, and cleft lip/palate. These phenotypic features are a result of an imbalance between the proliferation and differentiation of precursor cells during development of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.