Congenital Abnormalities

Displaying 1 - 3 of 3CSV
Karger, L. M., Webb, B. D., Edelmann, L., Liao, J., & Mehta, L. (2024). Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia. American Journal of Medical Genetics Part A. Portico. https://doi.org/10.1002/ajmg.a.63954
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Kushary, S. T., Revah‐Politi, A., Barua, S., Ganapathi, M., Accogli, A., Aggarwal, V., Brunetti‐Pierri, N., Cappuccio, G., Capra, V., Fagerberg, C. R., Gazdagh, G., Guzman, E., Hadonou, M., Harrison, V., Havelund, K., Iancu, D., Kraus, A., Lippa, N. C., Mansukhani, M., … Anyane Yeboa, K. (2021). ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature. American Journal of Medical Genetics Part A, 185(12), 3740–3753. Portico. https://doi.org/10.1002/ajmg.a.62445
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Chai, G., Szenker-Ravi, E., Chung, C., Li, Z., Wang, L., Khatoo, M., Marshall, T., Jiang, N., Yang, X., McEvoy-Venneri, J., Stanley, V., Anzenberg, P., Lang, N., Wazny, V., Yu, J., Virshup, D. M., Nygaard, R., Mancia, F., Merdzanic, R., … Gleeson, J. G. (2021). A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion. New England Journal of Medicine, 385(14), 1292–1301. https://doi.org/10.1056/nejmoa2033911
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