학술논문
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies
Document Type
Short Communication
Author
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.
Source
In The American Journal of Human Genetics 5 September 2019 105(3):640-657
Subject
Language
ISSN
0002-9297