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A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia.
Pang S, Wang W, Rich B, David R, Chang YT, Carbunaru G, Myers SE, Howie AF, Smillie KJ, Mason JI. Pang S, et al. J Clin Endocrinol Metab. 2002 Jun;87(6):2556-63. doi: 10.1210/jcem.87.6.8559. J Clin Endocrinol Metab. 2002. PMID: 12050213
Adrenarche: changing adrenal response to adrenocorticotropin.
Rich BH, Rosenfield RL, Lucky AW, Helke JC, Otto P. Rich BH, et al. J Clin Endocrinol Metab. 1981 Jun;52(6):1129-36. doi: 10.1210/jcem-52-6-1129. J Clin Endocrinol Metab. 1981. PMID: 6262366 No abstract available.
Adrenarche as a cause of benign pseudopuberty in boys.
Rosenfield RL, Rich BH, Lucky AW. Rosenfield RL, et al. Among authors: rich bh. J Pediatr. 1982 Dec;101(6):1005-9. doi: 10.1016/s0022-3476(82)80033-4. J Pediatr. 1982. PMID: 6216332
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