A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis (vol 102, pg 995, 2018)

DDD Study, C4RCD Res Grp, Christel Thauvin-Robinet*

*Corresponding author for this work

Research output: Contribution to journal › Erratum / corrigendum / retractions › Academic

Filter
Article

Search results

  • 2018

    A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

    Olson, H. E., Jean-Marcais, N., Yang, E., Heron, D., Tatton-Brown, K., van der Zwaag, P. A., Bijlsma, E. K., Krock, B. L., Backer, E., Kamsteeg, E-J., Sinnema, M., Reijnders, M. R. F., Bearden, D., Begtrup, A., Telegrafi, A., Lunsing, R. J., Burglen, L., Lesca, G., Cho, M. T., Smith, L. A., & 32 othersSheidley, B. R., El Achkar, C. M., Pearl, P. L., Poduri, A., Skraban, C. M., Tarpinian, J., Nesbitt, A. I., van de Putte, D. E. F., Ruivenkamp, C. A. L., Rump, P., Chatron, N., Sabatier, I., De Bellescize, J., Guibaud, L., Sweetser, D. A., Waxler, J. L., Wierenga, K. J., Donadieu, J., Narayanan, V., Ramsey, K. M., Nava, C., Riviere, J-B., Vitobello, A., Mau-Them, F. T., Philippe, C., Bruel, A-L., Duffourd, Y., Thomas, L., Lelieveld, S. H., Brunner, H. G., DDD Study; C4RCD Res Grp & Thauvin-Robinet, C., 3 May 2018, In: American Journal of Human Genetics. 102, 5, p. 995-1007 13 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access