Mutations in SOX2 cause anophthalmia
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Open Access
- 3 March 2003
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 33 (4), 462-463
- https://doi.org/10.1038/ng1120
Abstract
A submicroscopic deletion containing SOX2 was identified at the 3q breakpoint in a child with t(3;11)(q26.3;p11.2) associated with bilateral anophthalmia. Subsequent SOX2 mutation analysis identified de novo truncating mutations of SOX2 in 4 of 35 (11%) individuals with anophthalmia. Both eyes were affected in all cases with an identified mutation.Keywords
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