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Mutations in SOX2 cause anophthalmia |
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| Authors: | Fantes Judy Ragge Nicola K Lynch Sally-Ann McGill Niolette I Collin J Richard O Howard-Peebles Patricia N Hayward Caroline Vivian Anthony J Williamson Kathy van Heyningen Veronica FitzPatrick David R |
| Institution: | MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK. |
| 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. |
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