Ocular findings in Baraitser–Winter syndrome with a de novo mutation in the ACTG1 gene: a case report
Abstract Background Baraitser–Winter syndrome (BWS) is rare, and no previous reports have described the visual course of patients with this condition. Herein, we report the long-term visual outcomes and ocular features of a 6-year-old patient diagnosed with BWS. Case presentation A 6-year-old female...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2024-12-01
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| Series: | BMC Ophthalmology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12886-024-03791-1 |