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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.
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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  Data: 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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  Data: <searchLink fieldCode="JN" term="%22Ophthalmic+Genetics%22">Ophthalmic Genetics</searchLink>. Dec2025, Vol. 46 Issue 6, p658-661. 4p.
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        Value: 10.1080/13816810.2025.2519747
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      – Code: eng
        Text: English
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      – TitleFull: 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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              Text: Dec2025
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              Y: 2025
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              Value: 46
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