Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.
Williamson KA; Hever AM; Rainger J; Rogers RC; Magee A; Fiedler Z; Keng WT; Sharkey FH; McGill N; Hill CJ; Schneider A; Messina M; Turnpenny PD; Fantes JA; van Heyningen V; FitzPatrick DR; Human Molecular Genetics, 2006, vol. 15, issue 9, p 1413, ISSN 09646906. ISBN 09646906.

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