A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD
Abstract Background The genotype characteristics and their associated clinical phenotypes in patients with aniridia were analyzed to explore pathogenic variants using whole-exome sequencing. Methods One patient with aniridia was enrolled at the Beijing Tongren Hospital. Comprehensive ophthalmic and...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
BMC,
2023-08-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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