Osteochondrodysplasias

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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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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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