| Affiliation auteurs | !!!! Error affiliation !!!! |
| Titre | A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism and cerebellar dysgenesis |
| Type de publication | Journal Article |
| Year of Publication | 2019 |
| Auteurs | 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.RF, Bearden D., Lunsing R.J, Burglen L., Lesca G., Smith L.A, Sheidley B., Pearl P.L, C. Achkar MEl, Poduri A., Skraban C.M, Nesbitt A.I, van de Putte D.EFransen, Ruivenkamp C.AL, 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., F. Mau-Them T, Thevenon J., Faivre L., Thomas G., Thauvin-Robinet C. |
| Journal | EUROPEAN JOURNAL OF HUMAN GENETICS |
| Volume | 27 |
| Pagination | 853-854 |
| Date Published | JUL |
| Type of Article | Meeting Abstract |
| ISSN | 1018-4813 |
