GeneticsProceedings of the National Academy of SciencesPeer-reviewed
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons
Alexandre Bolze, Bertrand Boisson, Barbara Bosch…·Jean‐Laurent Casanova
The paper reports new RPSA mutations causing isolated congenital asplenia, including 5-UTR mutations and incomplete penetrance in some cases.