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A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism and cerebellar dysgenesis

التفاصيل البيبلوغرافية
العنوان:	A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism and cerebellar dysgenesis
المؤلفون:	Jean-Marcais, N., Olson, H. E., Yang, E., Heron, D., Tatton-Brown, K., van der Zwaag, P. A., Bijlsma, E. K., Krock, B. L., Backer, E., Kamsteeg, E., Sinnema, M., Reijnders, M. R. F., Bearden, D., Lunsing, R. J., Burglen, L., Lesca, G., Smith, L. A., Sheidley, B., Pearl, P. L., El Achkar, C. Moufawad, Poduri, A., Skraban, C. M., Nesbitt, A. I., van de Putte, D. E. Fransen, Ruivenkamp, C. A. L., Rump, P., Sabatier, I., Sweetser, D. A., Waxler, J. L., Tarpinian, J., Wierenga, K. J., Donadieu, J., Narayanan, V., Ramsey, K. M., Nava, C., Lelieveld, S. H., Schuurs-Hoeijmakers, J., Brunner, H. G., Keren, B., Mau-Them, F. Tran, Thevenon, J., Faivre, L., Thomas, G., Thauvin-Robinet, C.
المصدر:	European Journal of Human Genetics, 27, 853-854. Nature Publishing Group
سنة النشر:	2019
اللغة:	English
تدمد:	1018-4813
URL الوصول:	https://explore.openaire.eu/search/publication?articleId=narcis______::d0114cea4f687e72dbc0ec2faa82754e https://research.rug.nl/en/publications/0b4fba38-3f4b-40f5-9cd4-f1696ea47a29
حقوق:	RESTRICTED
رقم الأكسشن:	edsair.narcis........d0114cea4f687e72dbc0ec2faa82754e
قاعدة البيانات:	OpenAIRE

الوصف
تدمد:	10184813