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  1. 1
    P287: Familial testing allows reclassification of CCDC22 variant in neonate with Ritscher-Schinzel syndrome-2

    P287: Familial testing allows reclassification of CCDC22 variant in neonate with Ritscher-Schinzel syndrome-2 por Chelsi Rose, Elizabeth Mizerik, Nichole Owen, Casey Thornton, Chaya Murali, Lorraine Potocki

    Publicado em 2024-01-01
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  2. 2
    P701: Novel presentation of dextrocardia in TGIF1-related holoprosencephaly

    P701: Novel presentation of dextrocardia in TGIF1-related holoprosencephaly por Casey Thornton, Nichole Owen, Elizabeth Mizerik, Chelsi Rose, Seema Lalani, Emily Waskow, Keren Machol

    Publicado em 2024-01-01
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