Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia
GNAI1基因变异会导致一种综合征,其特征多种多样,包括发育迟缓、癫痫发作和肌张力低下。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-020-01076-8
Muir, Alison M; Gardner, Jennifer F; van Jaarsveld, Richard H; de Lange, Iris M; van der Smagt, Jasper J; Wilson, Golder N; Dubbs, Holly; Goldberg, Ethan M; Zitano, Lia; Bupp, Caleb; Martinez, Jose; Srour, Myriam; Accogli, Andrea; Alhakeem, Afnan; Meltzer, Meira; Gropman, Andrea; Brewer, Carole; Caswell, Richard C; Montgomery, Tara; McKenna, Caoimhe; McKee, Shane; Powell, Corinna; Vasudevan, Pradeep C; Brady, Angela F; Joss, Shelagh; Tysoe, Carolyn; Noh, Grace; Tarnopolsky, Mark; Brady, Lauren; Zafar, Muhammad; Schrier Vergano, Samantha A; Murray, Brianna; Sawyer, Lindsey; Hainline, Bryan E; Sapp, Katherine; DeMarzo, Danielle; Huismann, Darcy J; Wentzensen, Ingrid M; Schnur, Rhonda E; Monaghan, Kristin G; Juusola, Jane; Rhodes, Lindsay; Dobyns, William B; Lecoquierre, Francois; Goldenberg, Alice; Polster, Tilman; Axer-Schaefer, Susanne; Platzer, Konrad; Klöckner, Chiara; Hoffman, Trevor L; MacArthur, Daniel G; O'Leary, Melanie C; VanNoy, Grace E; England, Eleina; Varghese, Vinod C; Mefford, Heather C