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OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population

A clinical and genetic study was conducted with pediatric patients and their relatives with optic atrophy 1 (OPA1) mutations to establish whether there is a genotype–phenotype correlation among the variants detected within and between families. Eleven children with a confirmed OPA1 mutation were ide...

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Detalles Bibliográficos
Autores principales:	Arruti, Natalia, Rodríguez-Solana, Patricia, Nieves-Moreno, María, Guerrero-Carretero, Marta, del Pozo, Ángela, Montaño, Victoria E. F., Santos-Simarro, Fernando, Rikeros-Orozco, Emi, Delgado-Mora, Luna, Vallespín, Elena, Noval, Susana
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9857649/ https://www.ncbi.nlm.nih.gov/pubmed/36661516 http://dx.doi.org/10.3390/cimb45010030

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