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Clinical, Genetic, and Enzymatic Characterization of P450 Oxidoreductase Deficiency in Four Patients
Journal of Clinical Endocrinology and Metabolism, 10/21/09
Sahakitrungruang T et al. – These patients illustrate the broad clinical spectrum of POR deficiency, including amenorrhea and infertility as the sole manifestation. POR assays based on P450c17 correlate well with hormonal and clinical phenotypes.
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