uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome. - Coursimault J; Rovelet-Lecrux A; Cassinari K; Brischoux-Boucher E; Saugier-Veber P; Goldenberg A; Lecoquierre F; Drouot N; Richard AC; Vera G; Coutant S; Quenez O; et al. (Human mutation, 2022)