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- W2013151014 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." @default.
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- W2013151014 date "2011-05-12" @default.
- W2013151014 modified "2023-10-13" @default.
- W2013151014 title "Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate" @default.
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- W2013151014 doi "https://doi.org/10.1002/ajmg.a.34011" @default.
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