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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
Sutti Malaivijitnond
Alexandre R. Vieira
Jan Heering
Volker Dötsch
Theerapong Khankasikum
Warissara Sripathomsawat
Keywords: Biochemistry, Genetics and Molecular Biology
Issue Date: 1-Jun-2011
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.
ISSN: 15524833
Appears in Collections:CMUL: Journal Articles

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