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Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients

Polar metabolites were separated using a Vanquish U-HPLC system (Thermo Fisher Scientific) coupled to a Q-Exactive HF-X mass spectrometer equipped with an HESI probe (Thermo Fisher Scientific), operating in negative ion mode

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