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Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype–phenotype correlation analysis

PURPOSE: To describe the genetic and clinical features of nineteen patients from eleven unrelated Chinese pedigrees with OPA1-related autosomal dominant optic atrophy (ADOA) and define the phenotype-genotype correlations. METHODS: Detailed ophthalmic examinations were performed. Targeted next-genera...

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Detalles Bibliográficos
Autores principales:	Han, Jinfeng, Li, Ya, You, Ya, Fan, Ke, Lei, Bo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9327245/ https://www.ncbi.nlm.nih.gov/pubmed/35883160 http://dx.doi.org/10.1186/s12886-022-02546-0

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