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PMID 27260338
Gene Name SOX3
Condition 46,XX ovotesticular DSD
Association Associated
Mutation SOX3 gene duplication
Population size 1
Population details 1 case
Sex Male
Infertility type Male infertility


46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy

Grinspon RP, Nevado J, Mori Alvarez Mde L, Del Rey G, Castera R, Venara M, Chiesa A, Podestá M, Lapunzina P, Rey RA.

No abstract available