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cge12081-sup-0001-FigureS1.pdfPDF document69KFig. S1. Graphic representation of the 238 pathogenic mutations of MLL2 compared to respective mutation type identified in patients with Kabuki syndrome. The enclosed table (Table S10) shows the absolute numbers for each category while the percentages inside the graph show the relative frequencies.
cge12081-sup-0002-FigureS2.pdfPDF document129KFig. S2. This figure shows facial images of Kabuki patients, in which we identified no MLL2 mutations. Shown are patients 56, 65, 75 and 76.
cge12081-sup-0003-TableS1.xlsxExcel 2007 spreadsheet33KTable S1. Detailed overview of clinical features of each individual case presented in this study
cge12081-sup-0004-TableS2.docxWord 2007 document20KTable S2. List of the nonsense and frameshift mutations identified in this study
cge12081-sup-0005-TableS3.docxWord 2007 document18KTable S3. List of pathogenic missense mutations identified in this study
cge12081-sup-0006-TableS4.docxWord 2007 document15KTable S4. List of pathogenic splice-site mutations identified in this study
cge12081-sup-0007-TableS5.docxWord 2007 document17KTable S5. Variants of unknown significance and novel benign variants
cge12081-sup-0008-TableS6.docxWord 2007 document22KTable S6. Table comparing the clinical features identified in the patients with and without MLL2 mutations. The features are sorted by their frequency in all the patients in descending order. The first column describes the sign, the second the total number of patients for which a clinical description was provided and the third column the percentage of patients that presented each sign. The next columns show how many patients with and without mutations had (phen +) or or did not have (phen −) the interogated phenotype. The last column shows the p value (calculated by the Fisher's exact test) of the difference among the two groups
cge12081-sup-0009-TableS7.docxWord 2007 document22KTable S7. Table comparing the clinical features identified in the patients with nonsense and without MLL2 mutations.The table follows the structrure and sorting of Table S5
cge12081-sup-0010-TableS8.docxWord 2007 document15KTable S8. Clinical scoring list to quantify Kabuki phenotypes
cge12081-sup-0011-TableS9.docxWord 2007 document30KTable S9. Summary of all the mutations reported as pathogenic in the literature and the mutations identified in this study
cge12081-sup-0012-TableS10.docWord document16KTable S10. Comparison and summary of all the mutations reported as pathogenic in the literature

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