Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.
Williamson, Kathleen A.; Hever, Ann M.; Rainger, Joe; Rogers, R. Curtis; Magee, Alex; Fiedler, Zdenek; Keng, Wee Teik; Sharkey, Freddie H.; McGill, Niolette; Hill, Clare J.; Schneider, Adele; Messina, Mario; Turnpenny, Peter D.; Fantes, Judy A.; van Heyningen, Veronica; FitzPatrick, David R.; Human Molecular Genetics, 2006, vol. 15, issue 9, p 1413, ISSN 09646906. ISBN 09646906.

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