Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 2 of 2 for “"Sotos syndrome"”.
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On the epigenetic ageing clock in humans
… in the H3K36 methyltransferase NSD1, which cause Sotos syndrome, substantially accelerate epigenetic ageing. Furthermore, I show that the normal ageing process and Sotos syndrome share methylation changes and the genomic context in which they happen. These results suggest that the H3K36 …
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Deciphering the genetic and epigenetic basis of human imprinting and chromatin disorders
… (e.g., childhood-onset dystonia, Kabuki syndrome, Sotos syndrome, and Luscan-Lumish syndrome). In particular, methylation episignature analysis enabled the identification of epigenotype-phenotype associations and provided insights into pathogenetic mechanisms of copy number variants …