Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia
Aniridia is most commonly caused by haploinsufficiency of the PAX6 gene, characterized by variable iris and foveal hypoplasia, nystagmus, cataracts, glaucoma, and aniridia-related keratopathy (ARK). Genotype-phenotype correlations have previously been described; however, detailed longitudinal studie...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
American Society for Clinical investigation
2021-07-01
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| Series: | JCI Insight |
| Subjects: | |
| Online Access: | https://doi.org/10.1172/jci.insight.148406 |