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    <i>MECP2</i> Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables by Lourdes Vega-Hanna, Dídac Casas-Alba, Sol Balsells, Mercè Bolasell, Patricia Rubio, Ana García-García, Oscar García-García, Mar O’Callaghan, Ainhoa Pascual-Alonso, Judith Armstrong, MDS Group, Antonio F. Martinez-Monseny

    Published 2024-12-01
    “…<b>Methods</b>: A retrospective study was conducted on genetically confirmed MDS patients who were evaluated at a pediatric hospital between 2012 and 2024. Epidemiological, clinical, and molecular data were collected. …”
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