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Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy

OBJECTIVE: To explore the clinical manifestations and search for the variants of six related genes (LRP5, FZD4, TSPAN12, NDP, KIF11 and ZNF408) in Chinese patients with familial exudative vitreoretinopathy (FEVR), and investigate the correlation between the genetic variants and the clinical characte...

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Detalles Bibliográficos
Autores principales: Mao, Jianbo, Chen, Yijing, Fang, Yuyan, Shao, Yirun, Xiang, Ziyi, Li, Hanxiao, Zhao, Shixin, Chen, Yiqi, Shen, Lijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9704097/
https://www.ncbi.nlm.nih.gov/pubmed/36411543
http://dx.doi.org/10.1080/07853890.2022.2146744