Ophthalmic Genetics

Displaying 1 - 5 of 5
Andrade Azevedo de Vasconcelos, A., Kyun Oh, J., Guan, B., Torres, V. L. L., Lynch Gaete, M. I., & Lima de Carvalho, J. R. (2025). A novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia. Ophthalmic Genetics, 1–5. https://doi.org/10.1080/13816810.2024.2447499
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Yeager, L. B., Casper, D. S., Del Portillo, A., & Marr, B. P. (2023). Schimmelpenning-Feuerstein-Mims syndrome with orbital choristoma and KRAS mutation: a current review and novel case report. Ophthalmic Genetics, 1–6. https://doi.org/10.1080/13816810.2023.2291664
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Hu, J. C. W., Abdelhakim, A. H., North, V. S., Garcia, M. D., Lustig, M. J., Kazim, M., & Odel, J. G. (2022). Osteopathia striata with cranial sclerosis causing a compressive optic neuropathy. Ophthalmic Genetics, 44(5), 496–500. https://doi.org/10.1080/13816810.2022.2144902
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Tran, M., Kolesnikova, M., Kim, A. H., Kowal, T., Ning, K., Mahajan, V. B., Tsang, S. H., & Sun, Y. (2022). Clinical characteristics of high myopia in female carriers of pathogenic RPGR mutations: a case series and review of the literature. Ophthalmic Genetics, 44(3), 295–303. https://doi.org/10.1080/13816810.2022.2113544
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Chiu, N., Lee, W., Liu, P.-K., Levi, S. R., Wang, H.-H., Chen, N., Kang, E. Y.-C., Seo, G. H., Lee, H., Liu, L., Wu, W.-C., Tsai, S. H., & Wang, N.-K. (2021). A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature. Ophthalmic Genetics, 43(3), 378–384. https://doi.org/10.1080/13816810.2021.2010773
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