Parent-of-origin effects in SOX2 anophthalmia syndrome.
PURPOSE: Sex determining region Y (SRY)-box 2 (SOX2) anophthalmia syndrome is an autosomal dominant disorder manifesting as severe developmental eye malformations associated with brain, esophageal, genital, and kidney abnormalities. The syndrome is usually caused by de novo mutations or deletions i...
| Main Authors: | , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2011
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