Various phenotypes of autosomal dominant cone-rod dystrophy with cone-rod homeobox mutation in two Chinese families
AIM: To present the clinical manifestations of 5 autosomal dominant cone-rod dystrophy (adCORD) patients from two Chinese families with cone-rod homeobox (CRX) mutation (p.R41W), and to explore the clinical heterogeneity of adCORD with CRX mutation (p.R41W). METHODS: Interrogation and ophthalmologic...
| Автори: | , , , , , , |
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| Формат: | Стаття |
| Мова: | English |
| Опубліковано: |
Press of International Journal of Ophthalmology (IJO PRESS)
2022-12-01
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| Серія: | International Journal of Ophthalmology |
| Предмети: | |
| Онлайн доступ: | http://ies.ijo.cn/en_publish/2022/12/20221204.pdf |