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Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7

PURPOSE: To evaluate the retinal phenotype and genetic features of Chinese patients with spinocerebellar ataxia type 7 (SCA7). METHODS: Detailed ophthalmic examinations, including electroretinograms, fundus photography, fundus autofluorescence and optical coherence tomography, were performed to anal...

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Detalles Bibliográficos
Autores principales:	Zou, Xuan, Yao, Fengxia, Li, Fengrong, Wu, Shijing, Li, Hui, Sun, Zixi, Zhu, Tian, Wei, Xing, Li, Donghui, Sui, Ruifang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2021
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8116265/ https://www.ncbi.nlm.nih.gov/pubmed/34012225

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