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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Bibliographic Details
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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ISSN:13816810
DOI:10.1080/13816810.2025.2519747