Modulation of this pathway with the Hh agonist purmorphamine reconstituted impaired spheroid formation in collecting duct cells from Cep290-mutant mice and in URECs derived from a patient with Joubert syndrome (Hynes et al., 2014) as well the elongated cilia phenotype (Srivastava et al., 2017). Here, CEP290 is linked to Joubert syndrome.