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(1994) An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 372: 635\u2013641.","DOI":"10.1038\/372635a0"},{"key":"2","doi-asserted-by":"publisher","unstructured":"2 Muscatelli F, Strom TM, Walker AP, Zanaria E, R\u00e9can D, et al. (1994) Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 372: 672\u2013676.","DOI":"10.1038\/372672a0"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3 Lin L, Gu WX, Ozisik G, To WS, Owen CJ, et al. (2006) Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years\u2019 experience. J Clin Endocrinol Metab 91: 3048\u20133054.","DOI":"10.1210\/jc.2006-0603"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4 Iyer AK, McCabe ER (2004) Molecular mechanisms of DAX1 action. 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Zhonghua Yi Xue Yi Chuan Xue Za Zhi 38: 869\u2013872 (In Chinese)."},{"key":"19","doi-asserted-by":"crossref","unstructured":"19 Cole DE, Clarke LA, Riddell DC, Samson KA, Seltzer WK, et al. (1994) Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome. Clin Chem 40: 2099\u20132103.","DOI":"10.1093\/clinchem\/40.11.2099"},{"key":"20","unstructured":"20 Casado de Fr\u00edas E, Ruibal Francisco JL, Bueno Lozano G, Pinel Sim\u00f3n G, Reverte Blanc F, et al. (1997) Syndrome of contiguous gene deletions in Xp-21 (deficiency of the glycerol-kinase complex). The association of Duchenne muscular dystrophy, glycerol kinase deficiency and congenital suprarenal hypoplasia. An Esp Pediatr 47: 639\u2013642 (In Spanish)."},{"key":"21","doi-asserted-by":"crossref","unstructured":"21 Pantoja-Mart\u00ednez J, Mart\u00ednez-Castellano F, Tarazona-Casany I, Buesa-Ib\u00e1\u00f1ez E, Ardid-Encinar M, et al. (2007) Contiguous gene deletion syndrome in Xp21: the association between glycerol kinase deficiency, congenital suprarenal hypoplasia and Duchenne\u2019s muscular dystrophy. Rev Neurol 44: 606\u2013609 (In Spanish).","DOI":"10.33588\/rn.4410.2006581"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22 Rathnasiri A, Senarathne U, Arunath V, Hoole T, Kumarasiri I, et al. (2021) A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report. BMC Endocr Disord 21: 214.","DOI":"10.1186\/s12902-021-00876-6"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23 Jamroz E, Paprocka J, Popowska E, Pytel J, Ciara E, et al. (2010) Xp21.2 contiguous gene syndrome due to deletion involving glycerol kinase and Duchenne muscular dystrophy loci. Neurol India 58: 670\u2013671.","DOI":"10.4103\/0028-3886.68690"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24 Bi S, Dai L, Jiang L, Wang L, Teng M, et al. (2022) Chronic granulomatous disease associated with Duchenne muscular dystrophy caused by Xp21.1 contiguous gene deletion syndrome: Case report and literature review. Front Genet 13: 970204.","DOI":"10.3389\/fgene.2022.970204"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25 Weleber RG, Pillers DA, Powell BR, Hanna CE, Magenis RE, et al. (1989) Aland island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness. Arch Ophthalmol 107: 1170\u20131179.","DOI":"10.1001\/archopht.1989.01070020236032"},{"key":"26","unstructured":"26 Pillers DA, Towbin JA, Chamberlain JS, Wu D, Ranier J, et al. (1990) Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy. Am J Hum Genet 47: 795\u2013801."},{"key":"27","doi-asserted-by":"crossref","unstructured":"27 Sadeghmousavi S, Shahkarami S, Rayzan E, Ahmed S, Gharalari FH, et al. (2022) A 3-year-old boy with an Xp21 deletion syndrome: a case report. Endocr Metab Immune Disord Drug Targets 22: 881\u2013887.","DOI":"10.2174\/1871530322666220201143656"},{"key":"28","doi-asserted-by":"crossref","unstructured":"28 McCabe ER, Fennessey PV, Guggenheim MA, Miles BS, Bullen WW, et al. (1977) Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria. Biochem Biophys Res Commun 78: 1327\u20131333.","DOI":"10.1016\/0006-291X(77)91437-1"},{"key":"29","doi-asserted-by":"crossref","unstructured":"29 Sjarif DR, Ploos van Amstel JK, Duran M, Beemer FA, Poll-The BT (2000) Isolated and contiguous glycerol kinase gene disorders: a review. 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