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    Results: 5

    1.

    A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imaging.

    Tsutsumi S, Maekawa A, Obata M, Morgan T, Robertson SP, Kurachi H.

    Fetal Diagn Ther. 2012;32(3):216-20. doi: 10.1159/000335687. Epub 2012 Feb 18.

    PMID:
    22354125
    [PubMed - indexed for MEDLINE]
    2.

    Filamin B mutations cause chondrocyte defects in skeletal development.

    Lu J, Lian G, Lenkinski R, De Grand A, Vaid RR, Bryce T, Stasenko M, Boskey A, Walsh C, Sheen V.

    Hum Mol Genet. 2007 Jul 15;16(14):1661-75. Epub 2007 May 17.

    PMID:
    17510210
    [PubMed - indexed for MEDLINE]
    Free Article
    3.

    Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development.

    Zhou X, Tian F, Sandzén J, Cao R, Flaberg E, Szekely L, Cao Y, Ohlsson C, Bergo MO, Borén J, Akyürek LM.

    Proc Natl Acad Sci U S A. 2007 Mar 6;104(10):3919-24. Epub 2007 Feb 26.

    PMID:
    17360453
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    Mutations in FLNB cause boomerang dysplasia.

    Bicknell LS, Morgan T, Bonafé L, Wessels MW, Bialer MG, Willems PJ, Cohn DH, Krakow D, Robertson SP.

    J Med Genet. 2005 Jul;42(7):e43.

    PMID:
    15994868
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    5.

    Prenatal diagnosis of boomerang dysplasia.

    Wessels MW, Den Hollander NS, De Krijger RR, Bonifé L, Superti-Furga A, Nikkels PG, Willems PJ.

    Am J Med Genet A. 2003 Oct 1;122A(2):148-54.

    PMID:
    12955767
    [PubMed - indexed for MEDLINE]

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