A novel PAX2 heterozygous mutation in a male with anterior segment dysgenesis, colobomatous optic nerves and atypical retinal findings: a case report.
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| Title: | A novel PAX2 heterozygous mutation in a male with anterior segment dysgenesis, colobomatous optic nerves and atypical retinal findings: a case report. |
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| Authors: | Bourke, C.1 (AUTHOR) bourkecm@tcd.ie, Thompson, D.A.1 (AUTHOR), Moosajee, M.2 (AUTHOR), Lloyd, I.C.1 (AUTHOR) |
| Source: | Ophthalmic Genetics. Dec2025, Vol. 46 Issue 6, p658-661. 4p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 13816810 |
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| DOI: | 10.1080/13816810.2025.2519747 |