Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons
Alexandre Bolze, Bertrand Boisson, Barbara Bosch, Alexander Antipenko, Matthieu Bouaziz, Paul E. Sackstein, Malik Chaker-Margot, Vincent Barlogis, Tracy Ann Briggs, Elena Colino, Aurora C. Elmore, Alain Fischer, Ferah Genel, Angela L. Hewlett, Maher Jedidi, , Jean‐Laurent Casanova
The paper reports new RPSA mutations causing isolated congenital asplenia, including 5-UTR mutations and incomplete penetrance in some cases.
Proceedings of the National Academy of Sciences · Aug 2, 2018Peer-reviewedGenetics