GeneticsPLoS ONEPeer-reviewed
A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling
Fabiola Valenza, Davide Cittaro, Elia Stupka…·Dejan Lazarevic
The paper identifies a novel truncating GLI2 variant linked to Culler-Jones syndrome and demonstrates its dominant-negative effect on Hedgehog signaling through functional assays.
14 citations