Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center

PURPOSE: To evaluate the nature and association of different phenotypes associated with ABCA4 mutations in Chinese. METHODS: All patients were recruited from our pediatric and genetic eye clinic. Detailed ocular phenotypes were characterized. The disease course was evaluated by long-term follow-up o...

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Detalles Bibliográficos
Autores principales: Wang, Yingwei, Sun, Wenmin, Zhou, Jing, Li, Xueqing, Jiang, Yi, Li, Shiqiang, Jia, Xiaoyun, Xiao, Xueshan, Ouyang, Jiamin, Wang, Yueye, Zhou, Lin, Long, Yuxi, Liu, Mengchu, Li, Yongyu, Yi, Zhen, Wang, Panfeng, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9150840/
https://www.ncbi.nlm.nih.gov/pubmed/35608843
http://dx.doi.org/10.1167/iovs.63.5.28

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