N. Gonen and R. Lovell-badge, The regulation of Sox9 expression in the gonad, Curr. Top. Dev. Biol, vol.134, pp.223-252, 2019.

B. Nicol, RUNX1 maintains the identity of the fetal ovary through an interplay with FOXL2, Nat. Commun, vol.10, p.5116, 2019.
URL : https://hal.archives-ouvertes.fr/hal-02391710

A. Bashamboo, C. Eozenou, S. Rojo, and K. Mcelreavey, Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development, Clin. Genet, vol.91, pp.143-156, 2017.

B. Capel, Vertebrate sex determination: Evolutionary plasticity of a fundamental switch, Nat. Rev. Genet, vol.18, pp.675-689, 2017.

P. A. Lee, C. P. Houk, S. F. Ahmed, and I. A. Hughes, International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology, Consensus statement on management of intersex disorders, vol.118, pp.488-500, 2006.

L. Audi, GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 "DSDnet, Eur. J. Endocrinol, vol.179, pp.197-206, 2018.

P. A. Lee, Global DSD Update Consortium, Global disorders of sex development update since 2006: Perceptions, approach and care, Horm. Res. Paediatr, vol.85, p.180, 2016.

A. De-la-chapelle, Analytic review: Nature and origin of males with XX sex chromosomes, Am. J. Hum. Genet, vol.24, pp.71-105, 1972.

B. Ergun-longmire, Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature, J. Pediatr. Endocrinol. Metab, vol.18, pp.739-748, 2005.

E. Sutton, Identification of SOX3 as an XX male sex reversal gene in mice and humans, J. Clin. Invest, vol.121, pp.328-341, 2011.

C. Hyon, Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD), Am. J. Med. Genet. A, vol.167, pp.1851-1858, 2015.
URL : https://hal.archives-ouvertes.fr/hal-01311723

T. Seeherunvong, XX sex reversal with partial duplication of chromosome arm 22q, Am. J. Med. Genet. A, vol.46, pp.149-151, 2004.

B. Croft, Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9, Nat. Commun, vol.9, p.5319, 2018.

P. Parma, R-spondin1 is essential in sex determination, skin differentiation and malignancy, Nat. Genet, vol.38, pp.1304-1309, 2006.

A. Biason-lauber, D. Konrad, F. Navratil, and E. J. Schoenle, A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman, N. Engl. J. Med, vol.351, pp.792-798, 2004.

A. Bashamboo, Members of UDN, A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development, Hum. Mol. Genet, vol.25, p.5286, 2016.

A. Bashamboo, Loss of function of the nuclear receptor NR2F2, encoding COUP-TF2, causes testis development and cardiac defects in 46,XX children, Am. J. Hum. Genet, vol.102, pp.487-493, 2018.
URL : https://hal.archives-ouvertes.fr/pasteur-02872425

J. Pelletier, WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour, Nature, vol.353, pp.431-434, 1991.

J. Pelletier, Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome, Cell, vol.67, pp.437-447, 1991.

S. Barbaux, Donor splice-site mutations in WT1 are responsible for Frasier syndrome, Nat. Genet, vol.17, pp.467-470, 1997.

M. Suri, WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations, Am. J. Med. Genet. A, vol.143, pp.2312-2320, 2007.

Y. H. Ahn, Genotype-phenotype analysis of pediatric patients with WT1 glomerulopathy, Pediatr. Nephrol, vol.32, pp.81-89, 2017.

C. Jeanpierre, Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database, Am. J. Hum. Genet, vol.62, pp.824-833, 1998.

E. Nurmemmedov, R. K. Yengo, H. Uysal, R. Karlsson, and M. M. Thunnissen, New insights into DNA-binding behavior of Wilms tumor protein (WT1)-A dual study, Biophys. Chem, vol.145, pp.116-125, 2009.

K. Takasawa, FOXL2 transcriptionally represses Sf1 expression by antagonizing WT1 during ovarian development in mice, FASEB J, vol.28, pp.2020-2028, 2014.

M. Chen, Wt1 directs the lineage specification of sertoli and granulosa cells by repressing Sf1 expression, Development, vol.144, pp.44-53, 2017.

S. Vainio, M. Heikkilä, A. Kispert, N. Chin, and A. P. Mcmahon, Female development in mammals is regulated by Wnt-4 signalling, Nature, vol.397, pp.405-409, 1999.

A. A. Chassot, Activation of beta-catenin signaling by Rspo1 controls differentiation of the mammalian ovary, Hum. Mol. Genet, vol.17, pp.1264-1277, 2008.

N. D. Hastie, Wilms' tumour 1 (WT1) in development, homeostasis and disease, Development, vol.144, pp.2862-2872, 2017.

J. Pelletier, Expression of the Wilms' tumor gene WT1 in the murine urogenital system, Genes Dev, vol.5, pp.1345-1356, 1991.

S. Mundlos, Nuclear localization of the protein encoded by the Wilms' tumor gene WT1 in embryonic and adult tissues, Development, vol.119, pp.1329-1341, 1993.

S. Eggers and A. Sinclair, Mammalian sex determination-Insights from humans and mice, Chromosome Res, vol.20, pp.215-238, 2012.

D. M. Maatouk, Stabilization of beta-catenin in XY gonads causes male-to-female sex-reversal, Hum. Mol. Genet, vol.17, pp.2949-2955, 2008.

S. G. Tevosian and N. L. Manuylov, To beta or not to beta: Canonical beta-catenin signaling pathway and ovarian development, Dev. Dyn, vol.237, pp.3672-3680, 2008.

C. Englert, Truncated WT1 mutants alter the subnuclear localization of the wildtype protein, Proc. Natl. Acad. Sci. U.S.A, vol.92, pp.11960-11964, 1995.

V. Scharnhorst, P. Dekker, A. J. Van-der-eb, and A. G. Jochemsen, Internal translation initiation generates novel WT1 protein isoforms with distinct biological properties, J. Biol. Chem, vol.274, pp.23456-23462, 1999.

J. H. Laity, J. Chung, H. J. Dyson, and P. E. Wright, Alternative splicing of Wilms' tumor suppressor protein modulates DNA binding activity through isoform-specific DNAinduced conformational changes, Biochemistry, vol.39, pp.5341-5348, 2000.

J. H. Laity, H. J. Dyson, and P. E. Wright, Molecular basis for modulation of biological function by alternate splicing of the Wilms' tumor suppressor protein, Proc. Natl. Acad. Sci. U.S.A, vol.97, pp.11932-11935, 2000.