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(2002) Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene. J Clin Endocrinol Metab 87: 1805\u20131809.","DOI":"10.1210\/jcem.87.4.8379"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14 Vottero A, Kino T, Combe H, Lecomte P, Chrousos GP (2002) A novel, C-terminal dominant negative mutation of the GR causes familial glucocorticoid resistance through abnormal interactions with p160 steroid receptor coactivators. J Clin Endocrinol Metab 87: 2658\u20132667.","DOI":"10.1210\/jcem.87.6.8520"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15 Charmandari E, Raji A, Kino T, Ichijo T, Tiulpakov A (2005) A novel point mutation in the ligand-binding domain (LBD) of the human glucocorticoid receptor (hGR) causing generalized glucocorticoid resistance: the importance of the C terminus of hGR LBD in conferring transactivational activity. J Clin Endocrinol Metab 90: 3696\u20133705.","DOI":"10.1210\/jc.2004-1920"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16 Charmandari E, Kino T, Ichijo T, Jubiz W, Mejia L, et al. (2007). A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance. J Clin Endocrinol Metab 92: 3986\u20133990.","DOI":"10.1210\/jc.2006-2830"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17 McMahon SK, Pretorius CJ, Ungerer JP, Salmon NJ, Conwell LS, et al. (2010) Neonatal complete generalized glucocorticoid resistance and growth hormone deficiency caused by a novel homozygous mutation in Helix 12 of the ligand binding domain of glucocoticoid receptor gene (NR3C1). J Clin Endocrinol Metab 95: 297\u2013302.","DOI":"10.1210\/jc.2009-1003"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18 Nader N, Bachrach BE, Hurt DE, Gajula S, Pittman A, et al. 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