Liebenberg syndrome severity arises from variations in Pitx1 locus topology and proportion of ectopically transcribing cells

Abstract Enhancer hijacking, a common cause of gene misregulation linked to disease, occurs when non-matching enhancers and promoters interact ectopically due to genetic alterations. While the concept of enhancer hijacking is well understood, the reasons behind the variation in phenotypic severity r...

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Bibliographic Details
Main Authors: Olimpia Bompadre, Raquel Rouco, Fabrice Darbellay, Antonella Rauseo, Fanny Guerard-Millet, Claudia Gentile, Marie Kmita, Guillaume Andrey
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-025-61615-2
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