First Case of V281+I172N/V281L CYP21A2 Genotype Associated with Congenital Adrenal Hyperplasia: A Case Report from Southern Italy

    October 2007 in “ Clinical Biochemistry ”
    Paola Concolino, Salvatore Maria Corsello, Cinzia Carrozza … Ettore Capoluongo
    Studysummary This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
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    1. First Case of V281+I172N/V281L CYP21A2 Genotype Associated with Congenital Adrenal Hyperplasia: A Case Report from Southern Italy Clinical Biochemistry · 2007