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Summary
| Description | Phenotypic expression of aniridia with PAX6 gene mutation. The aniridic probands showed typical features of sclerocornea with nystagmus in proband 28–1 (A); Foveal hypoplasia in proband 27–1 (B); Ptosis, microcornea with dislocated cataractous lens in proband 10–1 (C); Ectopia lentis in proband 16–1 (D). |
| Date | |
| Source | Neethirajan G, Krishnadas SR, Vijayalakshmi P, Shashikant S, Sundaresan P. PAX6 gene variations associated with aniridia in south India. BMC Med Genet. 5, 9. 2004. PMID 15086958. DOI:10.1186/1471-2350-5-9 |
| Author | see above |
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| Date/Time | Thumbnail | Dimensions | User | Comment | |
|---|---|---|---|---|---|
| current | 14:18, 20 November 2007 | | 1,200 × 857 (129 KB) | Filip em | {{Information |Description=Phenotypic expression of aniridia with PAX6 gene mutation. The aniridic probands showed typical features of sclerocornea with nystagmus in proband 28–1 (A); Foveal hypoplasia in proband 27–1 (B); Ptosis, microcornea with dis |
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