Familial exudative vitreoretinopathy caused by CTNNB1 gene de novo mutation in a Chinese family: a case report
Abstract Background Familial exudative vitreoretinopathy (FEVR) is an inherited disorder of retinal vascularization insufficiency caused primarily by genetic mutations. So far, FEVR has been less reported in the Chinese population. This study will provide a case of FEVR due to CTNNB1 splice mutation...
Kaydedildi:
| Asıl Yazarlar: | , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BMC
2025-02-01
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| Seri Bilgileri: | BMC Pediatrics |
| Konular: | |
| Online Erişim: | https://doi.org/10.1186/s12887-025-05508-9 |
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