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  • A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2103, doi. 10.1002/ajmg.a.37765
    By:
    • Masurel‐Paulet, Alice;
    • Piton, Amélie;
    • Chancenotte, Sophie;
    • Redin, Claire;
    • Thauvin‐Robinet, Christel;
    • Henrenger, Yvan;
    • Minot, Delphine;
    • Creppy, Audrey;
    • Ruffier‐Bourdet, Marie;
    • Thevenon, Julien;
    • Kuentz, Paul;
    • Lehalle, Daphné;
    • Curie, Aurore;
    • Blanchard, Gaelle;
    • Ghosn, Ezzat;
    • Bonnet, Marlene;
    • Archimbaud‐Devilliers, Mélanie;
    • Huet, Frédéric;
    • Perret, Odile;
    • Philip, Nicole
    Publication type:
    Article