De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies
FBXW11基因的新生错义变异导致多种发育表型,包括脑、眼和手指异常。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.07.005
Holt, Richard J; Young, Rodrigo M; Crespo, Berta; Ceroni, Fabiola; Curry, Cynthia J; Bellacchio, Emanuele; Bax, Dorine A; Ciolfi, Andrea; Simon, Marleen; Fagerberg, Christina R; van Binsbergen, Ellen; De Luca, Alessandro; Memo, Luigi; Dobyns, William B; Mohammed, Alaa Afif; Clokie, Samuel J H; Zazo Seco, Celia; Jiang, Yong-Hui; Sørensen, Kristina P; Andersen, Helle; Sullivan, Jennifer; Powis, Zöe; Chassevent, Anna; Smith-Hicks, Constance; Petrovski, Slavé; Antoniadi, Thalia; Shashi, Vandana; Gelb, Bruce D; Wilson, Stephen W; Gerrelli, Dianne; Tartaglia, Marco; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K