Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD
下一代测序揭示了 46,XY DSD 成人患者的新型遗传变异(SRY、DMRT1、NR5A1、DHH、DHX37)
期刊:Journal of the Endocrine Society
影响因子:3
doi:10.1210/js.2019-00306
Federica Buonocore, Oliver Clifford-Mobley, Tom F J King, Niccolò Striglioni, Elim Man, Jenifer P Suntharalingham, Ignacio Del Valle, Lin Lin, Carlos F Lagos, Gill Rumsby, Gerard S Conway, John C Achermann