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"46,XY" sex reversal 10
- ... region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formation. Mol Hum Reprod. 2004 Jul;10(7):521-6. doi: 10.1093/molehr/gah071. ...
- ... 9; SRXY9 46,XY SEX REVERSAL 5; SRXY5 46,XY SEX REVERSAL 6; SRXY6 PubMed Arboleda VA, Sandberg DE, Vilain E. DSDs: genetics, underlying pathologies and psychosexual differentiation. Nat Rev Endocrinol. 2014 Oct;10(10):603-15. doi: 10.1038/nrendo.2014. ...
- ... MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 1; MAP3K1 46,XY SEX REVERSAL 6; SRXY6 NCBI Gene ClinVar Jara L, Gonzalez- ... Sinclair A, Ostrer H. Mutations in MAP3K1 cause 46,XY disorders of sex ... determination. Am J Hum Genet. 2010 Dec 10;87(6):898-904. doi: 10.1016/j. ...
- ... separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development. J Med Genet. 2015 Apr;52(4):240-7. doi: 10.1136/jmedgenet-2014-102864. Epub 2015 Jan 20. ...
- ... JR, Cheung SW, Stankiewicz P. Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). Hum Genet. 2007 Aug;122(1):63-70. doi: 10.1007/s00439-007-0373-8. Epub 2007 May ...
- Campomelic dysplasia is a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. This condition is often life- ...