Rpsamutations in isolated congenital asplenia (ICA): A ribosomopathy unveiled by Bosch, B, Bolze, A, Boisson, B, Antipenko, A, Itan, Y, Copley, R, Sackstein, P, Kini, U, Pollard, A, Kumararatne, D, Pac, M, Von Bernuth, H, Selleri, L, Puel, A, Picard, C, Mahlaoui, N, Casanova, J

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons by Bolze, A, Boisson, B, Bosch, B, Antipenko, A, Bouaziz, M, Sackstein, P, Chaker-Margot, M, Barlogis, V, Briggs, T, Colino, E, Elmore, A, Fischer, A, Genel, F, Hewlett, A, Jedidi, M, Kelecic, J, Krüger, R, Ku, C, Kumararatne, D, Lefevre-Utile, A, Loughlin, S, Mahlaoui, N, Markus, S, Garcia, J, Nizon, M, Oleastro, M, Pac, M, Picard, C, Pollard, A, Rodriguez-Gallego, C, Thomas, C, Von Bernuth, H, Worth, A, Meyts, I, Risolino, M, Selleri, L, Puel, A, Klinge, S, Abel, L, Casanova, J