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    Nat Genet. 2003 Apr;33(4):461-3. Epub 2003 Mar 3.

    Mutations in SOX2 cause anophthalmia.

    Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR.

    MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK.

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    A submicroscopic deletion containing SOX2 was identified at the 3q breakpoint in a child with t(3;11)(q26.3;p11.2) associated with bilateral anophthalmia. Subsequent SOX2 mutation analysis identified de novo truncating mutations of SOX2 in 4 of 35 (11%) individuals with anophthalmia. Both eyes were affected in all cases with an identified mutation.

    PMID: 12612584 [PubMed - indexed for MEDLINE]

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