Article

Liebenberg syndrome severity arises from variations in <i>Pitx1</i> locus topology and ectopically transcribing cells

2024-03-06

Abstract excerpt

Enhancer hijacking, a common cause of gene misregulation linked to disease, occurs when non-matching enhancers and promoters interact ectopically. This interaction is made possible by genetic changes that alter the arrangement or insulation of gene regulatory landscapes. While the concept of enhancer hijacking is well understood, the specific reasons behind the variation in phenotypic severity or the point at whic...

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Literature Corpus work: 086b9170-513e-5041-9705-3425d4f98c94
DOI: 10.1101/2024.03.04.582675

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