Liebenberg syndrome severity arises from variations in Pitx1 locus topology and ectopically transcribing cells
Olimpia Bompadre, Raquel Rouco, Fabrice Darbellay, Antonella Rauseo, Fanny Guerard-Millet, Claudia Gentile, Marie Kmita, Guillaume Andrey
This study shows that variations in enhancer-promoter interactions at the Pitx1 locus lead to pathogenic activation in variable cell proportions, defining phenotypic severity in Liebenberg syndrome.
Nature Communications · Jul 9, 2025Peer-reviewedDevelopmental Biology