A novel <i>PAX2</i> heterozygous mutation in a male with anterior segment dysgenesis, colobomatous optic nerves and atypical retinal findings: a case report
- DOI
- 10.6084/m9.figshare.29434038.v1
- Published
- 2025
- Container
- Not recorded
- Publisher
- Taylor & Francis
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.6084/m9.figshare.29434038.v1,
title = {A novel <i>PAX2</i> heterozygous mutation in a male with anterior segment dysgenesis, colobomatous optic nerves and atypical retinal findings: a case report},
author = {C. Bourke and D.A. Thompson and M. Moosajee and I.C. Lloyd},
year = {2025},
doi = {10.6084/m9.figshare.29434038.v1},
url = {https://doi.org/10.6084/m9.figshare.29434038.v1}
}RIS
TY - JOUR TI - A novel <i>PAX2</i> heterozygous mutation in a male with anterior segment dysgenesis, colobomatous optic nerves and atypical retinal findings: a case report AU - C. Bourke AU - D.A. Thompson AU - M. Moosajee AU - I.C. Lloyd PY - 2025 DO - 10.6084/m9.figshare.29434038.v1 UR - https://doi.org/10.6084/m9.figshare.29434038.v1 ER -
APA
Bourke, C., Thompson, D., Moosajee, M., & Lloyd, I. (2025). A novel <i>PAX2</i> heterozygous mutation in a male with anterior segment dysgenesis, colobomatous optic nerves and atypical retinal findings: a case report. https://doi.org/10.6084/m9.figshare.29434038.v1
Source records
- datacite · retrieved 2026-11-07T14:27:05.348Z