Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD

por Buonocore, Federica, Clifford-Mobley, Oliver, King, Tom F J, Striglioni, Niccolò, Man, Elim, Suntharalingham, Jenifer P, del Valle, Ignacio, Lin, Lin, Lagos, Carlos F, Rumsby, Gill, Conway, Gerard S, Achermann, John C
Publicado en J Endocr Soc (2019)

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing

por Maharaj, Avinaash, Buonocore, Federica, Meimaridou, Eirini, Ruiz-Babot, Gerard, Guasti, Leonardo, Peng, Hwei-Ming, Capper, Cameron P, Burgos-Tirado, Neikelyn, Prasad, Rathi, Hughes, Claire R, Maudhoo, Ashwini, Crowne, Elizabeth, Cheetham, Timothy D, Brain, Caroline E, Suntharalingham, Jenifer P, Striglioni, Niccolò, Yuksel, Bilgin, Gurbuz, Fatih, Gupta, Sangay, Lindsay, Robert, Couch, Robert, Spoudeas, Helen A, Guran, Tulay, Johnson, Stephanie, Fowler, Dallas J, Conwell, Louise S, McInerney-Leo, Aideen M, Drui, Delphine, Cariou, Bertrand, Lopez-Siguero, Juan P, Harris, Mark, Duncan, Emma L, Hindmarsh, Peter C, Auchus, Richard J, Donaldson, Malcolm D, Achermann, John C, Metherell, Louise A
Publicado en J Endocr Soc (2018)