 | Up a level |
2020
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
Pavinato, L., Howe, J. L., Carli, D., Agolini, E., Coviello, D. A., Van de Laar, I. M. B. H., Au, P. Y. B., Di Gregorio, E., Giorgio, E., Pozzi, E., Ferrero, M., Cardaropoli, S., Delle Vedove, A., Salpietro, V., Zara, F., Novelli, A., Wirth, B., Ferrero, G. B., Scherer, S. W. and Brusco, A. (2020). Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 322 - 323. LONDON: SPRINGERNATURE. ISSN 1476-5438