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|Title:||Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate|
|Authors:||Piranit N. Kantaputra|
Alexandre R. Vieira
|Keywords:||Biochemistry, Genetics and Molecular Biology|
|Abstract:||Mutations in sterile alpha motif (SAM) domain of TP63 have been reported to be associated with ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. SAM domain, a protein-protein interaction module, is found in cytoplasmic signaling proteins and several transcriptional regulatory proteins which are involved in development and differentiation. Here, we report on a SAM domain mutation (p.Asp564His) in TP63 that predisposed the patients to have nonsyndromic cleft palate and nonsyndromic cleft lip and palate. © 2011 Wiley-Liss, Inc.|
|Appears in Collections:||CMUL: Journal Articles|
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