A novel variant in PAX6 as the cause of aniridia in a Chinese family
Abstract Background Aniridia is a kind of congenital human pan-ocular anomaly, which is related to PAX6 commonly. Methods The ophthalmic examinations including visual acuity, slit lamp and fundoscopy examination were performed in a Chinese aniridia pedigree. The targeted next-generation sequencing o...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2021-05-01
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| Series: | BMC Ophthalmology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12886-021-01848-z |