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Kelberman D, Rizzoti K, Lovell-Badge R, Robinson IC, Dattani MT (2009) Genetic regulation of pituitary gland development in human and mouse. <i>Endocr Rev<\/i> 30: 790-829."},{"key":"2","unstructured":"2. de Roux N, Carel JC, L&eacute;ger J (2016) Congenital Hypogonadotropic Hypogonadism: A Trait Shared by Several Complex Neurodevelopmental Disorders. <i>Endocr Dev<\/i> 29: 72-86."},{"key":"3","unstructured":"3. Tziaferi V, Kelberman D, Dattani MT (2008) The role of SOX2 in hypogonadotropic hypogonadism. <i>Sex Dev<\/i> 2: 194-195."},{"key":"4","unstructured":"4. Topaloglu AK, Kotan LD (2016) Genetics of Hypogonadotropic Hypogonadism. <i>Endocr Dev<\/i> 29: 36-49."},{"key":"5","unstructured":"5. Izumi Y, Suzuki E, Kanzaki S, Yatsuga S, Kinjo S, <i>et al<\/i>. (2014) Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism. <i>Fertil Steril<\/i> 102: 1130-1136."},{"key":"6","unstructured":"6. Kelberman D, Rizzoti K, Avilion A, Bitner-Glindzicz M, Cianfarani S, <i>et al<\/i>. (2006) Mutations within Sox2\/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. <i>J Clin Invest<\/i> 116: 2442-2455."},{"key":"7","unstructured":"7. Chassaing N, Causse A, Vigouroux A, Delahaye A, Alessandri JL, <i>et al<\/i>. (2014) Molecular findings and clinical data in a cohort of 150 patients with anophthalmia\/microphthalmia. <i>Clin Genet<\/i> 86: 326-334."},{"key":"8","unstructured":"8. Suzuki J, Azuma N, Dateki S, Soneda S, Muroya K, <i>et al<\/i>. (2014) Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities. <i>J Hum Genet<\/i> 59: 353-356."},{"key":"9","unstructured":"9. Mauri L, Franzoni A, Scarcello M, Sala S, Garavelli L, <i>et al<\/i>. (2015) SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia. <i>Eur J Med Genet<\/i> 58: 66-70."},{"key":"10","unstructured":"10. Sato N, Kamachi Y, Kondoh H, Shima Y, Morohashi K, <i>et al<\/i>. (2007) Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2. <i>Eur J Endocrinol<\/i> 156: 167-171."},{"key":"11","unstructured":"11. Kelberman D, de Castro SC, Huang S, Crolla JA, Palmer R, <i>et al<\/i>. (2008) SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. <i>J Clin Endocrinol Metab<\/i> 93: 1865-1873."},{"key":"12","unstructured":"12. Dennert N, Engels H, Cremer K, Becker J, Wohlleber E, <i>et al<\/i>. (2017) De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. <i>Am J Med Genet A<\/i> 173: 435-443."},{"key":"13","unstructured":"13. Jayakody SA, Andoniadou CL, Gaston-Massuet C, Signore M, Cariboni A, <i>et al<\/i>. (2012) SOX2 regulates the hypothalamic-pituitary axis at multiple levels. <i>J Clin Invest<\/i> 122: 3635-3646."},{"key":"14","unstructured":"14. Takagi M, Narumi S, Asakura Y, Muroya K, Hasegawa Y, <i>et al<\/i>. (2014)A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation. <i>Horm Res Paediatr<\/i> 81: 133-138."},{"key":"15","unstructured":"15. Williamson KA, FitzPatrick DR (2014) The genetic architecture of microphthalmia, anophthalmia and coloboma. <i>Eur J Med Genet<\/i> 57: 369-380."},{"key":"16","unstructured":"16. Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, <i>et al<\/i>. (2003) Mutations in SOX2 cause anophthalmia. <i>Nat Genet<\/i> 33: 461-463."},{"key":"17","unstructured":"17. Ragge NK, Lorenz B, Schneider A, Bushby K, de Sanctis L, <i>et al<\/i>. (2005) SOX2 anophthalmia syndrome. <i>Am J Med Genet A<\/i> 135: 1-7."},{"key":"18","unstructured":"18. Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, <i>et al<\/i>. (2007) SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. <i>Br J Ophthalmol<\/i> 91: 1471-1476."},{"key":"19","unstructured":"19. Schneider A, Bardakjian T, Reis LM, Tyler RC, Semina EV (2009) Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. <i>Am J Med Genet A<\/i> 149: 2706-2715."},{"key":"20","unstructured":"20. Gerth-Kahlert C, Williamson K, Ansari M, Rainger JK, Hingst V, <i>et al<\/i>. (2013) Clinical and mutation analysis of 51 probands with anophthalmia and\/or severe microphthalmia from a single center. <i>Mol Genet Genomic Med<\/i> 1: 15-31."},{"key":"21","unstructured":"21. Schilter KF, Reis LM, Schneider A, Bardakjian TM, Abdul-Rahman O, <i>et al<\/i>. (2013) Whole-genome copy number variation analysis in anophthalmia and microphthalmia. <i>Clin Genet<\/i> 84: 473-481."},{"key":"22","unstructured":"22. Taranova OV, Magness ST, Fagan BM, Wu Y, Surzenko N, <i>et al<\/i>. (2006) SOX2 is a dose-dependent regulator of retinal neural progenitor competence. <i>Genes Dev<\/i> 20: 1187-1202."},{"key":"23","unstructured":"23. Zhang S, Cui W (2014) Sox2, a key factor in the regulation of pluripotency and neural differentiation. <i>World J Stem Cells<\/i> 6: 305-311."},{"key":"24","unstructured":"24. Masui S, Nakatake Y, Toyooka Y, Shimosato D, Yagi R, <i>et al<\/i>. 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