Article

DNA methylation signature in <i>NSD2</i> loss-of-function variants appeared similar to that in Wolf-Hirschhorn syndrome

2023-01-08

Abstract excerpt

<h4>Purpose</h4> Wolf-Hirschhorn syndrome (WHS), a contiguous gene syndrome caused by the hemizygous deletion of the distal short arm of chromosome 4 where NSD2 is, reportedly exhibits specific DNA methylation signatures in peripheral blood cells. However, responsible genomic loci for signatures are unreported. The objective of the study is to define the loci of WHS-related DNA methylation signatures and to expl...

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Literature Corpus work: 2b71cadf-5ed4-52bf-b516-e077ef86b375
DOI: 10.1101/2023.01.06.522834

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