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See Latest ArticlesFunctional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia
Clinical Endocrinology, 09/16/09
Concolino P et al. – In this paper, the authors report two novel CYP21A2 mutations in two Italian individuals affected by 21–hydroxylase deficiency. Based on the functional in vitro analysis these mutations can be classified as NC–CAH variants.
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