Eye Abnormalities

Displaying 1 - 3 of 3CSV
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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Braun, M., Frieden, I. J., Siegel, D. H., George, E., Hess, C. P., Fox, C. K., Chamlin, S. L., Drolet, B. A., Metry, D., Pope, E., Powell, J., Holland, K., Ulschmid, C., Liang, M. G., Barry, K. K., Ho, T., Cotter, C., Baselga, E., Bosquez, D., … Mathes, E. F. (2024). Multicenter Study of Long-Term Outcomes and Quality of Life in PHACE Syndrome after Age 10. The Journal of Pediatrics, 267, 113907. https://doi.org/10.1016/j.jpeds.2024.113907
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Qiao, L., Xu, L., Yu, L., Wynn, J., Hernan, R., Zhou, X., Farkouh-Karoleski, C., Krishnan, U. S., Khlevner, J., De, A., Zygmunt, A., Crombleholme, T., Lim, F.-Y., Needelman, H., Cusick, R. A., Mychaliska, G. B., Warner, B. W., Wagner, A. J., Danko, M. E., … Chung, W. K. (2021). Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene. The American Journal of Human Genetics, 108(10), 1964–1980. https://doi.org/10.1016/j.ajhg.2021.08.011
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