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Dworschak, G. C., Punetha, J., Kalanithy, J. C., Mingardo, E., Erdem, H. B., Akdemir, Z. C., Karaca, E., Mitani, T., Marafi, D., Fatih, J. M., Jhangiani, S. N., Hunter, J. V., Dakal, T., Dhabhai, B., Dabbagh, O., Alsaif, H. S., Alkuraya, F. S., Maroofian, R., Houlden, H., Efthymiou, S., Dominik, N., Salpietro, V., Sultan, T., Haider, S., Bibi, F., Thiele, H., Hoefele, J., Riedhammer, K. M., Wagner, M., Guella, I., Demos, M., Keren, B., Buratti, J., Charles, P., Nava, C., Valkanas, E., Waddell, L. B., Jones, K. J., Oates, E. C., Cooper, S. T., MacArthur, D., Schnur, R. E., Hoganson, G. E., Burton, J. E., McEntagart, M., Pehlivan, D., Posey, J. E., Lupski, J. R. and Reutter, H. (2020). Biallelic and monoallelic variants in PLXNA1 cause a syndromic disorder with neurodevelopmental and oculo-cerebral anomalies. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 130 - 132. LONDON: SPRINGERNATURE. ISSN 1476-5438