Functional Evaluation of Novel CYP21A2 Variants: Expanding the Genetic Basis of Non-Classic CAH

    October 2024 in “ Journal of the Endocrine Society
    А.Г. Матвеева, Yaohua Xu, Véronique Tardy-Guidollet, Amit V. Pandey
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    Studysummary This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.
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