학술논문
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
Document Type
Article
Author
Dworschak, G.C.; Kalanithy, J.C.; Mingardo, E.; Reutter, H.; Yilmaz, Ö.; Odermatt, B.; Punetha, J.; Akdemir, Z.C.; Mitani, T.; Marafi, D.; Fatih, J.M.; Pehlivan, D.; Posey, J.E.; Lupski, J.R.; Erdem, H.B.; Karaca, E.; Jhangiani, S.N.; Hunter, J.V.; Dakal, T.C.; 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.; Héron, D.; Heide, S.; Valkanas, E.; Waddell, L.B.; Jones, K.J.; Oates, E.C.; Cooper, S.T.; MacArthur, D.; Syrbe, S.; Ziegler, A.; Platzer, K.; Okur, V.; Chung, W.K.; O’Shea, S.A.; Alcalay, R.; Fahn, S.; Mark, P.R.; Guerrini, R.; Vetro, A.; Hudson, B.; Schnur, R.E.; Hoganson, G.E.; Burton, J.E.; McEntagart, M.; Lindenberg, T.
Source
In: Genetics in Medicine . (Genetics in Medicine, September 2021, 23(9):1715-1725)
Subject
Language
English
ISSN
15300366
10983600
10983600