Article

Delineation of the First Human Mendelian Disorder of the DNA Demethylation Machinery: <i>TET3</i> Deficiency

2019-07-31

Abstract excerpt

<h4>ABSTRACT</h4> Germline pathogenic variants in chromatin-modifying enzymes are a common cause of pediatric developmental disorders. These enzymes catalyze reactions that regulate epigenetic inheritance via histone post-translational modifications and DNA methylation. Cytosine methylation of DNA (5mC) is the quintessential epigenetic mark, yet no human Mendelian disorder of DNA demethylation has been delineated...

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Literature Corpus work: 027996a4-ba92-5040-84d2-84cf7c9f04a5
DOI: 10.1101/719047

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