Clinical and Genetic Features of Korean Patients with Achromatopsia

This multicenter study aimed to characterize Korean patients with achromatopsia. The patients’ genotypes and phenotypes were retrospectively evaluated. Twenty-one patients (with a mean age at the baseline of 10.9 years) were enrolled and followed up for a mean of 7.3 years. A targeted gene panel or...

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Detalles Bibliográficos
Autores principales: Choi, Yong Je, Joo, Kwangsic, Lim, Hyun Taek, Kim, Sung Soo, Han, Jinu, Woo, Se Joon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957537/
https://www.ncbi.nlm.nih.gov/pubmed/36833446
http://dx.doi.org/10.3390/genes14020519

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957537/
https://www.ncbi.nlm.nih.gov/pubmed/36833446
http://dx.doi.org/10.3390/genes14020519

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