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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: batch ja. 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
Demographic, Clinical, Management, and Outcome Characteristics of 8,004 Young Children With Type 1 Diabetes.
Sandy JL, Tittel SR, Rompicherla S, Karges B, James S, Rioles N, Zimmerman AG, Fröhlich-Reiterer E, Maahs DM, Lanzinger S, Craig ME, Ebekozien O; Australasian Diabetes Data Network (ADDN); T1D Exchanged Quality Improvement Collaborative (T1DX-QI); Prospective Diabetes Follow-Up Registry Initiative (DPV). Sandy JL, et al. Diabetes Care. 2024 Apr 1;47(4):660-667. doi: 10.2337/dc23-1317. Diabetes Care. 2024. PMID: 38305782
67 results