By interrogating DNAm in SS patients, we identify a genome-wide, highly significant NSD1 +/− -specific signature that differentiates pathogenic NSD1 mutations from controls, benign NSD1 variants and the clinically overlapping Weaver syndrome.
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By interrogating DNAm in SS patients, we identify a genome-wide, highly significant NSD1 +/− -specific signature that differentiates pathogenic NSD1 mutations from controls, benign NSD1 variants and the clinically overlapping Weaver syndrome.