| 1 | NR5A1, SRA3
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| Novel NR5A1 Pathogenic Variants Cause Phenotypic Heterogeneity in 46,XY Disorders of Sex Development.
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| Sudhakar DVS, Jaishankar S, Regur P, Kumar U, Singh R, Kabilan U, Namduri S, Dhyani J, Gupta NJ, Chakravarthy B, Vaman K, Shabir I, Khadgawat R, Deenadayal M, Chaitanya A D, Dada R, Sharma Y, Anand A, Thangaraj K.
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| Sex Dev. 13(4):178-186. doi: 10.1159/000505527. Epub 2020 Feb 1. 2019
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| 2 | NR5A1, SRA3
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| New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.
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| Werner R, Mönig I, Lünstedt R, Wünsch L, Thorns C, Reiz B, Krause A, Schwab KO, Binder G, Holterhus PM, Hiort O.
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| PLoS One. May 1;12(5):e0176720. doi: 10.1371/journal.pone.0176720. eCollection 2017. 2017
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| 3 | NR5A1, SRA3
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| Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males.
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| Röpke A, Tewes AC, Gromoll J, Kliesch S, Wieacker P, Tüttelmann F.
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| Eur J Hum Genet 21(9):1012-5. doi: 10.1038/ejhg.2012.290. Epub 2013 Jan 9.
2013
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| 4 | NR5A1, POF4, SRA3
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| Update - Steroidogenic factor 1 (SF-1, NR5A1).
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| Köhler B, Achermann JC.
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| Minerva Endocrinol 35(2):73-86.PMID: 20595937 2010
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| 5 | NR5A1, POF4, SRA3
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| Mutations in NR5A1 associated with ovarian insufficiency.
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| Lourenço D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A.
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| N Engl J Med 360(12):1200-10. Epub 2009 Feb 25. 2009
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| 6 | DSS, SRA, SRA2, SRA3, NR0B1, SRD5A2, PPSH
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| Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis.
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| Barbaro M, Cicognani A, Balsamo A, Lšfgren A, Baldazzi L, Wedell A, Oscarson M.
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| Clin Genet 73(5):453-64. Epub 2008 Apr 2. 2008
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| 7 | NR0B1, NR5A1, SRA3, DSS
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| Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.
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| Lin L, Gu WX, Ozisik G, To WS, Owen CJ, Jameson JL, Achermann JC.
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| J Clin Endocrinol Metab 91(8):3048-54. Epub 2006 May 9. 2006
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| 8 | PPKSR, SRY, SOX9, NR0B1, DSS, GDXY, SRA, SRA2, SRA3
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| One tissue, two fates: molecular genetic events that underlie testis versus ovary development.
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| Brennan J, Capel B.
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| Nat Rev Genet 5(7):509-21. Review. No abstract available. 2004
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| 9 | NR5A1, SRA3
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| Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency.
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| Mallet D, Bretones P, Michel-Calemard L, Dijoud F, David M, Morel Y.
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| J Clin Endocrinol Metab 89(10):4829-32. 2004
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| 10 | NR5A1, SRA3
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| The role of SF1 in adrenal and reproductive function: insight from naturally occurring mutations in humans.
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| Ozisik G, Achermann JC, Jameson JL.
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| Mol Genet Metab 76(2):85-91. Review. 2002
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| 11 | NR0B1, NR5A1, DSS, AHC, NR5A1, SRA3
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| Phenotypic spectrum of mutations in DAX-1 and SF-1.
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| Achermann JC, Meeks JJ, Jameson JL.
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| Mol Cell Endocrinol 185(1-2):17-25. Review. 2001
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| 12 | NR5A1, SRA3
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| Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency.
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| Biason-Lauber A, Schoenle EJ.
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| Am J Hum Genet 67(6):1563-8. 2000
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| 13 | NR5A1, SRA3
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| A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans.
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| Achermann JC, et al.
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| Nat Genet 22(2):125-6. No abstract available 1999
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