Phenotype, genotype and hormonal values in the five patients in whom novel mutations were found.
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Novel mutations are displayed in bold and hormonal values are expressed in ng/ml. Values of basal 17 hydroxyprogesterone (17-OHP) and after ACTH stimulation, basal androstenedione (Δ4A), testosterone (To) and dehydroepiandrosterone sulphate (DHEA-S) are showed. *Hormonal values under treatment with 6 mg meprednisone plus 0.05 mg 9α-fluorocortisol.a: cis/trans presence of mutations is assumed.b: maternal/paternal alleles.ND: not determined. N: Normal wild type allele.
创建时间：
2015-12-02
