Browsing Centre for Endocrinology by Author "Gurbuz, F"
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Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.
Maharaj, A; Buonocore, F; Meimaridou, E; Ruiz-Babot, G; Guasti, L; Peng, H-M; Capper, CP; Burgos-Tirado, N; Prasad, R; Hughes, CR (2019-01-01)Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that can present with nonspecific features and can be difficult to diagnose. We undertook next generation sequencing in a cohort of children ...