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Blake,              KD,              Davenport,              SLH, Hall,                BD, Hefner,                MA, Pagon,                RA,                Williams,              MS, et al.            CHARGE association: an update and review for the primary            pediatrician. Clin Pediatr (Phila)          1998;37: 159\u201373.","DOI":"10.1177\/000992289803700302"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Verloes,              A. Updated            diagnostic criteria for CHARGE syndrome: a proposal. Am J Med            Genet A          2005;133A: 306\u20138.","DOI":"10.1002\/ajmg.a.30559"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Bergman,                JEH,                Janssen, N,                Hoefsloot,              LH, Jongmans,                MCJ,                Hofstra,              RMW, van                Ravenswaaij-Arts,            CM. CHD7            mutations and CHARGE syndrome: the clinical implications of an expanding            phenotype. J Med Genet          2011;48: 334\u201342.","DOI":"10.1136\/jmg.2010.087106"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Gage,              PJ, Hurd,                EA, Martin,                DM. Mouse            models for the dissection of CHD7 functions in eye development and the molecular basis            for ocular defects in CHARGE syndrome. Invest Ophthalmol Vis            Sci          2015;56: 7923\u201330.","DOI":"10.1167\/iovs.15-18069"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Schneider,                A,                Bardakjian,              T, Reis,                LM, Tyler,                RC, Semina,                EV. Novel            SOX2 mutations and genotype-phenotype correlation in anophthalmia and            microphthalmia. Am J Med Genet A          2009;149A: 2706\u201315.","DOI":"10.1002\/ajmg.a.33098"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Richards,                S, Aziz,                N, Bale,                S, Bick,                D, Das,                S,                Gastier-Foster,              J, et al.            ACMG Laboratory Quality Assurance Committee.            Standards and guidelines for the interpretation of sequence variants: a            joint consensus recommendation of the American College of Medical Genetics and Genomics            and the Association for Molecular Pathology. Genet Med          2015;17: 405\u201324.","DOI":"10.1038\/gim.2015.30"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Kelberman,                D, de                Castro, SCP,                Huang, S,                Crolla, JA,                Palmer, R,                Gregory,            JW, et al.            SOX2 plays a critical role in the pituitary, forebrain, and eye during            human embryonic development. J Clin Endocrinol Metab          2008;93: 1865\u201373.","DOI":"10.1210\/jc.2007-2337"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Shima,              H, Ishii,                A, Wada,                Y, Kizawa,                J, Yokoi,                T, Azuma,                N, et al.            SOX2 nonsense mutation in a patient clinically diagnosed with            non-syndromic hypogonadotropic hypogonadism. Endocr J          2017;64: 813\u20137.","DOI":"10.1507\/endocrj.EJ17-0078"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Chassaing,                N,                Gilbert-Dussardier,              B, Nicot,                F,              Fermeaux, V,                Encha-Razavi,              F, Fiorenza,                M, et al.            Germinal mosaicism and familial recurrence of a SOX2 mutation with highly            variable phenotypic expression extending from AEG syndrome to absence of ocular            involvement. Am J Med Genet A          2007;143A: 289\u201391.","DOI":"10.1002\/ajmg.a.31524"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Zenteno,                JC,                Perez-Cano,              HJ, Aguinaga,                M.            Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion            in monozygotic twin brothers with markedly discordant phenotypes.            Am J Med Genet A          2006;140: 1899\u2013903.","DOI":"10.1002\/ajmg.a.31384"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Zentner,                GE, Layman,                WS, Martin,                DM,                Scacheri,              PC. Molecular            and phenotypic aspects of CHD7 mutation in CHARGE syndrome. Am J            Med Genet A          2010;152A: 674\u201386.","DOI":"10.1002\/ajmg.a.33323"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. 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":"13","doi-asserted-by":"crossref","unstructured":"13. Layman,              WS, Hurd,                EA, Martin,                DM.            Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model            of CHARGE syndrome. Hum Mol Genet          2011;20: 3138\u201350.","DOI":"10.1093\/hmg\/ddr216"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Jayakody,                SA,                Andoniadou,              CL,                Gaston-Massuet,              C, Signore,                M,              Cariboni, A,                Bouloux,            PM, et al.            SOX2 regulates the hypothalamic-pituitary axis at multiple            levels. J Clin Invest          2012;122: 3635\u201346.","DOI":"10.1172\/JCI64311"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Busch,              AS, Ljubicic,                ML, Upners,                EN,              Fischer, MB,                Raket, LL,                Frederiksen,              H, et al.            Dynamic changes of reproductive hormones in male minipuberty: temporal            dissociation of leydig and sertoli cell activity. J Clin            Endocrinol Metab          2022;107: 1560\u20138.","DOI":"10.1210\/clinem\/dgac115"},{"key":"16","unstructured":"16. Yoshizawa,                A, Tanaka,                T,              Horikawa, R,                Miki, H,                Ito, J,                Tanaka, M,              et al. Clinical study on the            immunoradiometric assay of lutenizing hormone and follicle stimulating hormone in            children. Horumon to Rinsho          1990;38: 217\u201321 (in          Japanese)."},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Choo,              DI, Tawfik,                KO, Martin,                DM,              Raphael,            Y. Inner ear            manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward            treatments in auditory and vestibular structures. Am J Med Genet            C Semin Med Genet          2017;175: 439\u201349.","DOI":"10.1002\/ajmg.c.31587"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Pitteloud,                N, Quinton,                R, Pearce,                S, Raivio,                T, Acierno,                J, Dwyer,                A, et al.            Digenic mutations account for variable phenotypes in idiopathic            hypogonadotropic hypogonadism. J Clin Invest          2007;117: 457\u201363.","DOI":"10.1172\/JCI29884"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Engelen,              E, Akinci,                U, Bryne,                JC, Hou,                J, Gontan,                C, Moen,                M, et al.            Sox2 cooperates with Chd7 to regulate genes that are mutated in human            syndromes. Nat Genet          2011;43: 607\u201311.","DOI":"10.1038\/ng.825"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Jongmans,                MC,                Hoefsloot,              LH, van der                Donk, KP,                Admiraal,              RJ, Magee,                A, van de                Laar, I, et            al. Familial CHARGE syndrome and the CHD7 gene: a            recurrent missense mutation, intrafamilial recurrence and variability.            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