A novel GJA3 mutation causing autosomal dominant congenital perinuclear cataracts
Abstract Objective To identify the cause of congenital perinuclear cataracts in a Chinese family and its underlying mechanism. Methods Family history and clinical data were recorded, and candidate genes were amplified by polymerase chain reaction (PCR) and screened for mutations using direct bidirec...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-04-01
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| Series: | BMC Ophthalmology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12886-025-03978-0 |
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