Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders
RELN基因的单等位基因和双等位基因突变是导致一系列神经发育障碍的根本原因。
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awac164
Di Donato, Nataliya; Guerrini, Renzo; Billington, Charles J; Barkovich, A James; Dinkel, Philine; Freri, Elena; Heide, Michael; Gershon, Elliot S; Gertler, Tracy S; Hopkin, Robert J; Jacob, Suma; Keedy, Sarah K; Kooshavar, Daniz; Lockhart, Paul J; Lohmann, Dietmar R; Mahmoud, Iman G; Parrini, Elena; Schrock, Evelin; Severi, Giulia; Timms, Andrew E; Webster, Richard I; Willis, Mary J H; Zaki, Maha S; Gleeson, Joseph G; Leventer, Richard J; Dobyns, William B