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McCabe, MJ, Alatzoglou, KS, Dattani, MT. Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. Best Pract Res Clin Endocrinol Metab 2011;25: 115\u201324.","DOI":"10.1016\/j.beem.2010.06.008"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Cemeroglu, AP, Coulas, T, Kleis, L. Spectrum of clinical presentations and endocrinological findings of patients with septo-optic dysplasia: a retrospective study. J Pediatr Endocrinol Metab 2015;28: 1057\u201363.","DOI":"10.1515\/jpem-2015-0008"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Ryabets-Lienhard, A, Stewart, C, Borchert, M, Geffner, ME. The optic nerve hypoplasia spectrum: review of the literature and clinical guidelines. Adv Pediatr 2016;63: 127\u201346.","DOI":"10.1016\/j.yapd.2016.04.009"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Signorini, SG, Decio, A, Fedeli, C, Luparia, A, Antonini, M, Bertone, C, et al. 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Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies. Pediatr Rep 2011;3: e20.","DOI":"10.4081\/pr.2011.e20"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Tajima, T, Hattorri, T, Nakajima, T, Okuhara, K, Sato, K, Abe, S, et al. Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient. J Clin Endocrinol Metab 2003;88: 45\u201350.","DOI":"10.1210\/jc.2002-020818"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Kelberman, D, Rizzoti, K, Avilion, A, Bitner-Glindzicz, M, Cianfarani, S, Collins, J, et al. Mutations within Sox2\/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest 2006;116: 2442\u201355.","DOI":"10.1172\/JCI28658"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Tajima, T, Ohtake, A, Hoshino, M, Amemiya, S, Sasaki, N, Ishizu, K, et al. OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary. J Clin Endocrinol Metab 2009;94: 314\u20139.","DOI":"10.1210\/jc.2008-1219"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. McCabe, MJ, Hu, Y, Gregory, LC, Gaston-Massuet, C, Alatzoglou, KS, Saldanha, JW, et al. Novel application of luciferase assay for the in\u00a0vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD). Mol Cell Endocrinol 2015;417: 63\u201372.","DOI":"10.1016\/j.mce.2015.09.010"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Kim, HG, Ahn, JW, Kurth, I, Ullmann, R, Kim, HT, Kulharya, A, et al. WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 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