46,XY gonadal dysgenesis

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[2]. Anna Biason-Lauber, et al. Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. Am J Hum Genet. 2009 May;84(5):658-63. [Content Brief]

[3]. Anu Bashamboo, et al. Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. Hum Mol Genet. 2014 Jul 15;23(14):3657-65. [Content Brief]

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[6]. Federica Buonocore, et al. Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD. J Endocr Soc. 2019 Oct 10;3(12):2341-2360. [Content Brief]

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[8]. Marta Smyk, et al. Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). Hum Genet. 2007 Aug;122(1):63-70. [Content Brief]

[9]. S Barbaux, et al. Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet. 1997 Dec;17(4):467-70. [Content Brief]

[10]. Steven M Harrison, et al. Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure. Am J Med Genet A. 2013 Oct;161A(10):2487-94. [Content Brief]

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