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Neonatal complete generalized glucocorticoid resistance and growth hormone deficiency caused by a novel homozygous mutation in Helix 12 of the ligand binding domain of the glucocorticoid receptor gene (NR3C1).
McMahon SK, Pretorius CJ, Ungerer JP, Salmon NJ, Conwell LS, Pearen MA, Batch JA. McMahon SK, et al. Among authors: pearen ma. J Clin Endocrinol Metab. 2010 Jan;95(1):297-302. doi: 10.1210/jc.2009-1003. Epub 2009 Nov 20. J Clin Endocrinol Metab. 2010. PMID: 19933394
Rorα deficiency and decreased adiposity are associated with induction of thermogenic gene expression in subcutaneous white adipose and brown adipose tissue.
Lau P, Tuong ZK, Wang SC, Fitzsimmons RL, Goode JM, Thomas GP, Cowin GJ, Pearen MA, Mardon K, Stow JL, Muscat GE. Lau P, et al. Among authors: pearen ma. Am J Physiol Endocrinol Metab. 2015 Jan 15;308(2):E159-71. doi: 10.1152/ajpendo.00056.2014. Epub 2014 Nov 25. Am J Physiol Endocrinol Metab. 2015. PMID: 25424999 Free article.
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