In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome (Q36365675)

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In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome
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    In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome (English)
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    Virginie Carmignac
    Julien Thevenon
    Lesley Adès
    Sophie Julia
    Lucie Gueneau
    Jean-Benoit Courcet
    Estelle Lopez
    Katherine Holman
    Marjolijn Renard
    Henri Plauchu
    Ghislaine Plessis
    Anne Child
    Gavin Arno
    Laurence Duplomb
    Patrick Callier
    Bernard Aral
    Nadège Gigot
    Maurizia Grasso
    Cyril Goizet
    Maja Di Rocco
    Jaime Sanchez Del Pozo
    Frédéric Huet
    Guillaume Jondeau
    Gwenaëlle Collod-Beroud
    Jean-Baptiste Rivière
    25 October 2012
    950-957

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