Publication
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing
Avinaash Maharaj, Federica Buonocore, Eirini Meimaridou, Gerard Ruiz-Babot, Leonardo Guasti, Hwei-Ming Peng, Cameron P Capper, Neikelyn Burgos-Tirado, Rathi Prasad, Claire R Hughes, Ashwini Maudhoo, Elizabeth Crowne, Timothy D Cheetham, Caroline E Brain, Jenifer P Suntharalingham, Niccolò Striglioni, Bilgin Yuksel, Fatih Gurbuz, Sangay Gupta, Robert Lindsay, Robert Couch, Helen A Spoudeas, Tulay Guran, Stephanie Johnson, Dallas J Fowler, Louise S Conwell, Aideen M McInerney-Leo, Delphine Drui, Bertrand Cariou, Juan P Lopez-Siguero, Mark Harris, Emma L Duncan, Peter C Hindmarsh, Richard J Auchus, Malcolm D Donaldson, John C Achermann, Louise A Metherell
Journal of the Endocrine Society, October 2018, Endocrine Society
DOI: 10.1210/js.2018-00130