Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants
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DOI: 10.3390/genes13112163
Abstract: Background: Inactivating NSD1 mutations causing Sotos syndrome have been previously associated with a specific genome-wide DNA methylation (DNAm) pattern. Sotos syndrome is characterized by phenotypic overlap with other overgrowth syndromes, and a definite diagnosis might… read more here.
Keywords: genome wide; uncertainty; dna methylation; nsd1 variants ... See more keywords