Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management (Q45013339)

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Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management
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    Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management (English)
    David Ortiz Martin
    Ainhoa Abad Lopez
    Rebekah K Jobling
    Martine Le Merrer
    Bernard Le Luyer
    Michèle Mathieu-Dramard
    Marie-Laure Nunes
    Dorothée Delesalle
    Sylvie Manouvrier
    Christine Binquet
    Jean-Baptiste Rivière
    Corinne Vigouroux
    Christel Thauvin-Robinet

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