Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.
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Williamson KA, et al. Among authors: fantes ja.
Hum Mol Genet. 2006 May 1;15(9):1413-22. doi: 10.1093/hmg/ddl064. Epub 2006 Mar 16.
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PMID: 16543359