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Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy

PURPOSE: This study aims to analyze the Norrie disease gene (NDP) variants in patients with familial exudative vitreoretinopathy (FEVR) and their clinical features. METHODS: Thirty-three Chinese patients (22 familial and 11 simplex) who were diagnosed as FEVR underwent detailed ocular examinations i...

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Publicado en:BMC Ophthalmol
Autores principales: Jia, Li-Yun, Ma, Kai
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2021
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7885586/
https://ncbi.nlm.nih.gov/pubmed/33588793
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12886-021-01852-3
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