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Lack of mutations in the gene coding for the hGR (NR3C1) in a pediatric patient with ACTH-secreting pituitary adenoma, absence of stigmata of Cushing's syndrome and unusual histologic features.
Briassoulis G, Horvath A, Christoforou P, Lodish M, Xekouki P, Quezado M, Patronas N, Keil MF, Stratakis CA. Briassoulis G, et al. J Pediatr Endocrinol Metab. 2012;25(1-2):213-9. doi: 10.1515/jpem.2011.371. J Pediatr Endocrinol Metab. 2012. PMID: 22570980 Free PMC article.
Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease.
Faucz FR, Tirosh A, Tatsi C, Berthon A, Hernández-Ramírez LC, Settas N, Angelousi A, Correa R, Papadakis GZ, Chittiboina P, Quezado M, Pankratz N, Lane J, Dimopoulos A, Mills JL, Lodish M, Stratakis CA. Faucz FR, et al. J Clin Endocrinol Metab. 2017 Aug 1;102(8):2836-2843. doi: 10.1210/jc.2017-00161. J Clin Endocrinol Metab. 2017. PMID: 28505279 Free PMC article.
SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency.
Settas N, Persky R, Faucz FR, Sheanon N, Voutetakis A, Lodish M, Metherell LA, Stratakis CA. Settas N, et al. J Clin Endocrinol Metab. 2019 May 1;104(5):1484-1490. doi: 10.1210/jc.2018-02238. J Clin Endocrinol Metab. 2019. PMID: 30517686 Free PMC article.
Blood pressure in pediatric patients with Cushing syndrome.
Lodish MB, Sinaii N, Patronas N, Batista DL, Keil M, Samuel J, Moran J, Verma S, Popovic J, Stratakis CA. Lodish MB, et al. J Clin Endocrinol Metab. 2009 Jun;94(6):2002-8. doi: 10.1210/jc.2008-2694. Epub 2009 Mar 17. J Clin Endocrinol Metab. 2009. PMID: 19293264 Free PMC article.
138 results