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- [2] A Novel Mutation in the Critical P-Box Residue of Steroidogenic Factor-1 Presenting with XY Sex Reversal and Transient Adrenal Failure HORMONE RESEARCH IN PAEDIATRICS, 2018, 89 (06): : 450 - 454
- [3] A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2004, 89 (04): : 1767 - 1772
- [5] Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1 JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2004, 89 (12): : 5930 - 5935
- [8] Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2007, 92 (08): : 2868 - 2873
- [10] Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration Reproductive Biology and Endocrinology, 8