Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy

AIMS: To evaluate the clinical characteristics and causative genetic variants in autosomal optic atrophy diagnosed using next-generation sequencing (NGS). METHODS: A cohort of 57 unrelated families affected with bilateral optic atrophy were recruited from two university-based tertiary referral hospi...

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Detalles Bibliográficos
Autores principales: Seo, Yuri, Kim, Tae Young, Won, Dongju, Shin, Saeam, Choi, Jong Rak, Lee, Seung-Tae, Lee, Byung Joo, Lim, Hyun Taek, Han, Sueng-Han, Han, Jinu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9441910/
https://www.ncbi.nlm.nih.gov/pubmed/36071901
http://dx.doi.org/10.3389/fneur.2022.978532

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9441910/
https://www.ncbi.nlm.nih.gov/pubmed/36071901
http://dx.doi.org/10.3389/fneur.2022.978532

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