Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.

Minor, A, Shinawi, M, Hogue, JS, Vineyard, M, Hamlin, DR, Tan, C, Donato, K, Wysinger L, Botes, S, Das, S, del Gaudio, D. Gene. 2014, 537(2): 279-284.