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Nat Genet. 2003 Apr;33(4):440-2.
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.
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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Cited by 25 PubMed Central articles
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PLoS One. 2009; 4(3):e4815. Epub 2009 Mar 13.
[PLoS One. 2009]
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[Mol Vis. 2009]
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Xenopus Sox3 activates sox2 and geminin and indirectly represses Xvent2 expression to induce neural progenitor formation at the expense of non-neural ectodermal derivatives.
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[Mech Dev. 2009]
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