SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies

Hagstrom SA, Pauer GJ, Reid J, Simpson E, Crowe S, Maumenee IH, Traboulsi EI. SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. Am J Med Genet A. 2005 Oct 1;138A(2):95-8.