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)
    Magali Avila
    David A Dyment
    Judith St-Onge
    Brian H Y Chung
    Sahar Mansour
    Assunta Albanese
    Sixto Garcia
    David Ortiz Martin
    Ainhoa Abad Lopez
    Tor Claudi
    Rainer König
    Susan M White
    Sarah L Sawyer
    Jon A Bernstein
    Leah Slattery
    Rebekah K Jobling
    Grace Yoon
    Cynthia J Curry
    Martine Le Merrer
    Bernard Le Luyer
    Michèle Mathieu-Dramard
    Sylvie Odent
    Julien Thevenon
    Martine Laville
    Yves Reznik
    Cédric Fagour
    Marie-Laure Nunes
    Dorothée Delesalle
    Sylvie Manouvrier
    Olivier Lascols
    Frédéric Huet
    Christine Binquet
    Laurence Faivre
    Jean-Baptiste Rivière
    Corinne Vigouroux
    Christel Thauvin-Robinet
    24 October 2015

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