Article

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

2018-11-24

Abstract excerpt

Germline mutations in fundamental epigenetic regulatory molecules including DNA methyltransferase 3A ( DNMT3A ) are commonly associated with growth disorders, whereas somatic mutations are often associated with malignancy. We profiled genome-wide DNA methylation patterns in DNMT3A c.2312G>A; p.(Arg771Gln) carriers in a large Amish sibship with Tatton-Brown-Rahman syndrome (TBRS), their mosaic father and 15 TBRS...

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Literature Corpus work: 1eeec1ae-06f4-554d-9ca6-9b91c6531619
DOI: 10.1101/477356

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