Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD
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
Published in Journal of the Endocrine Society (01.12.2019)
Published in Journal of the Endocrine Society (01.12.2019)
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Journal Article
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing
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
Published in Journal of the Endocrine Society (01.01.2019)
Published in Journal of the Endocrine Society (01.01.2019)
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Journal Article