High-Throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort

    Raiane P Crespo, Thaís Rocha, Luciana Ribeiro Montenegro, Mirian Yumie Nishi, Alexander A L Jorge, Gustavo Arantes Rosa Maciel, Edmund Chada Baracat, Ana Cláudia Latronico, Berenice B. Mendonca, Larissa Gomes
    Studysummary This study identified several rare genetic variants related to insulin resistance in women with PCOS, highlighting the potential for monogenic conditions in patients with extreme or atypical phenotypes.
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