Optic Atrophy

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Wang, E. H.-H., Lin, P.-H., Wu, P.-L., Kang, E. Y.-C., Liu, L., Yeh, L.-K., Chen, K.-J., Hsiao, M.-C., & Wang, N.-K. (2024). Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29. BMC Medical Genomics, 17(1). https://doi.org/10.1186/s12920-024-01850-6
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Chang, Y.-H., Kang, E. Y.-C., Liu, L., Jenny, L. A., Khang, R., Seo, G. H., Lee, H., Chen, K.-J., Wu, W.-C., Hsiao, M.-C., & Wang, N.-K. (2023). Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling. Orphanet Journal of Rare Diseases, 18(1). https://doi.org/10.1186/s13023-023-02748-9
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