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See Latest ArticlesGenetics of congenital adrenal hyperplasia
Best Practice & Research Clinical Endocrinology & Metabolism, 06/17/09
Krone N et al. - Inactivating POR gene mutations are the cause of CAH manifesting with apparent combined CYP17A1–CYP21A2 deficiency. P450 oxidoreductase deficiency (ORD) has a complex phenotype including two unique features not observed in any other CAH variant: skeletal malformations and severe genital ambiguity in both sexes.
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