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Article

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

16 Mar 2006

Abstract excerpt

We report heterozygous, loss-of-function SOX2 mutations in three unrelated individuals with Anophthalmia-Esophageal-Genital (AEG) syndrome. One previously reported case [Rogers, R.C. (1988) Unknown cases. Proceedings of the Greenwood Genetic Center. 7, 57.] has a 2.7 Mb deletion encompassing SOX2 and associated with a cryptic translocation t(3;7)(q28;p21.3). The deletion and translocation breakpoints on...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 16543359
DOI: 10.1093/hmg/ddl064

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