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

Internet

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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