Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement. - D'Abrusco F; Gana S; Alfei E; Scarano E; Nicita F; Bertini ES; Digilio MC; Zanni G; Barbuti D; Carlicchi E; Pichiecchio A; D'Arrigo S; et al. (Journal of medical genetics, 2025)