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Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|March 27, 2026
WT1 Deletion in 46,XY DSD: The Importance of Copy Number Variant AnalysisGabby Atlas, Katrina M Bell, Gorjana Robevska, et al.
Plos One|January 8, 2020
The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in miceStefan Bagheri-Fam, Huijun Chen, Sean Wilson, et al.
The Journal of Clinical Investigation|December 25, 2010
Identification of SOX3 as an XX male sex reversal gene in mice and humansEdwina Sutton, James Hughes, Stefan White, et al.
American Journal of Human Genetics|December 7, 2010
Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determinationAlexander Pearlman, Johnny Loke, Cedric Le Caignec, et al.
Clinical Endocrinology|March 4, 2016
Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from IndonesiaA Zulfa Juniarto, Yvonne G van der Zwan, Ardy Santosa, et al.
Plos One|March 17, 2011
Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesisStefan White, Thomas Ohnesorg, Amanda Notini, et al.
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