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    Results: 5

    1.

    Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.

    Mateo RK, Johnson R, Lehmann OJ.

    Mol Vis. 2012;18:1301-11. Epub 2012 May 30.

    PMID:
    22690109
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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    2.

    Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

    Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M.

    J Med Genet. 2011 Jun;48(6):375-82. doi: 10.1136/jmg.2011.089631. Epub 2011 Apr 20.

    PMID:
    21507892
    [PubMed - indexed for MEDLINE]

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    3.

    Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome.

    Yeung A, Amor D, Savarirayan R.

    Am J Med Genet A. 2009 Feb 15;149A(4):767-9. doi: 10.1002/ajmg.a.32743.

    PMID:
    19291776
    [PubMed - indexed for MEDLINE]

    Related citations

    4.

    Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.

    Li C, Marles SL, Greenberg CR, Chodirker BN, van de Kamp J, Slavotinek A, Chudley AE.

    Am J Med Genet A. 2007 Apr 15;143A(8):853-7.

    PMID:
    17352387
    [PubMed - indexed for MEDLINE]

    Related citations

    5.

    Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.

    Slavotinek A, Li C, Sherr EH, Chudley AE.

    Am J Med Genet A. 2006 Sep 15;140(18):1909-14.

    PMID:
    16894541
    [PubMed - indexed for MEDLINE]

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