De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism
EBF3基因的新生突变与肌张力低下、发育迟缓、智力障碍和自闭症有关。
期刊:Cold Spring Harbor Molecular Case Studies
影响因子:1.8
doi:10.1101/mcs.a002097
Tanaka, Akemi J; Cho, Megan T; Willaert, Rebecca; Retterer, Kyle; Zarate, Yuri A; Bosanko, Katie; Stefans, Vikki; Oishi, Kimihiko; Williamson, Amy; Wilson, Golder N; Basinger, Alice; Barbaro-Dieber, Tina; Ortega, Lucia; Sorrentino, Susanna; Gabriel, Melissa K; Anderson, Ilse J; Sacoto, Maria J Guillen; Schnur, Rhonda E; Chung, Wendy K