A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype. Dorval S, Masciadri M, Mathot M, Russo S, Revencu N, Larizza L European journal of medical genetics
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype. Gervasini C, Parenti I, Picinelli C, Azzollini J, Masciadri M, Cereda A, Selicorni A, Russo S, Finelli P, Larizza L European journal of medical genetics
