Works matching DE "SKELETAL dysplasia"

Results: 2
    1

    Variants in CFAP410 cause a range of retinal and skeletal phenotypes.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00489-1
    By:
    • Schmidt, Ryan E.;
    • Pohodich, Amy E.;
    • Birch, David;
    • Jones, Kaylie;
    • Lam, Byron L.;
    • Jung, Emily H.;
    • Jain, Nieraj;
    • Georgiou, Michalis;
    • Mahroo, Omar A.;
    • Webster, Andrew R.;
    • Michaelides, Michel;
    • Bakall, Benjamin;
    • Iannaccone, Alessandro;
    • Vincent, Ajoy;
    • Parameswarappa, Deepika C.;
    • Heon, Elise;
    • Scholl, Hendrik P. N.;
    • Janeschitz-Kriegl, Lucas;
    • Traboulsi, Elias I.;
    • Zein, Wadih
    Publication type:
    Article
    2