Journal
NATURE GENETICS
Volume 33, Issue 4, Pages 461-463Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng1120
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Funding
- Medical Research Council [MC_U127527199] Funding Source: Medline
- Medical Research Council [MC_U127527199] Funding Source: researchfish
- MRC [MC_U127527199] Funding Source: UKRI
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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.
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