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  • Mutations in two regions of FLNB result in atelosteogenesis I and III.

    Published in:
    Human Mutation, 2006, v. 27, n. 7, p. 705, doi. 10.1002/humu.20348
    By:
    • Farrington-Rock, Claire;
    • Firestein, Marc H.;
    • Bicknell, Louise S.;
    • Superti-Furga, Andrea;
    • Bacino, Carlos A.;
    • Cormier-Daire, Valerie;
    • Le Merrer, Martine;
    • Baumann, Clarisse;
    • Roume, Joelle;
    • Rump, Patrick;
    • Verheij, Joke B.G.M.;
    • Sweeney, Elizabeth;
    • Rimoin, David L.;
    • Lachman, Ralph S.;
    • Robertson, Stephen P.;
    • Cohn, Daniel H.;
    • Krakow, Deborah
    Publication type:
    Article