Liebenberg syndrome severity arises from variations in Pitx1 locus topology and ectopically transcribing cells
Olimpia Bompadre, Raquel Rouco, Fabrice Darbellay…·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.