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  • Mutations in PYCR1 cause cutis laxa with progeroid features.

    Published in:
    Nature Genetics, 2009, v. 41, n. 9, p. 1016, doi. 10.1038/ng.413
    By:
    • Reversade, Bruno;
    • Escande-Beillard, Nathalie;
    • Dimopoulou, Aikaterini;
    • Fischer, Björn;
    • Chng, Serene C;
    • Yun Li;
    • Shboul, Mohammad;
    • Tham, Puay-Yoke;
    • Kayserili, Hülya;
    • Al-Gazali, Lihadh;
    • Shahwan, Monzer;
    • Brancati, Francesco;
    • Lee, Hane;
    • O'Connor, Brian D;
    • Kegler, Mareen Schmidt-von;
    • Merriman, Barry;
    • Nelson, Stanley F.;
    • Masri, Amira;
    • Alkazaleh, Fawaz;
    • Guerra, Deanna
    Publication type:
    Article