Article
Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype.
Archives of dermatology - 1 Dec 2005
Payne Aimee S, Yan Albert C, Ilyas Erum, Li Weijie, Seykora John T, Young Terri L, Pawel Bruce R, Honig Paul J, Camacho Jeanette, Imaizumi Sonia, Heymann Warren R, Schnur Rhonda E
Abstract excerpt
BACKGROUND: Ankyloblepharon, ectodermal defects, and cleft lip and palate (AEC) syndrome is a rare autosomal dominant disorder caused by mutations in the sterile alpha motif region of TP63, a homologue of the tumor suppressor TP53. Recent structure-function studies have identified complexities in the genotype-phenotype correlation of the p63 syndromes. OBSERVATIONS: We report 2 sporadic cases of AEC syndrome in...
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