Back to matchesWe found a matchYour institution may have rights to this item. Sign in to continue.TitleuORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.AuthorsCoursimault, Juliette; Rovelet‐Lecrux, Anne; Cassinari, Kévin; Brischoux‐Boucher, Elise; Saugier‐Veber, Pascale; Goldenberg, Alice; Lecoquierre, François; Drouot, Nathalie; Richard, Anne‐Claire; Vera, Gabriella; Coutant, Sophie; Quenez, Olivier; Rolain, Marion; Bonnet, Céline; Bronner, Myriam; Lecourtois, Magalie; Nicolas, GaëlPublicationHuman Mutation, 2022, Vol 43, Issue 9, p1239ISSN1059-7794Publication typeArticleDOI10.1002/humu.24384