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González AA, Reyes ML, Carvajal CA, Tobar JA, Mosso LM, Baquedano P, Solar A, Venegas A, Fardella CE. Congenital lipoid adrenal hyperplasia caused by a novel splicing mutation in the gene for the steroidogenic acute regulatory protein. J Clin Endocrinol Metab. 2004 Feb;89(2):946–51. doi: 10.1210/jc.2003-030345. PMID: 14764819. |