De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

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Holt, R. J.; Young, R. M.; Crespo, B.; Ceroni, F.; Curry, C. J.; Bellacchio, E.; Bax, D. A.; Ciolfi, A.; Simon, M.; Fagerberg, C. R.; van Binsbergen, E.; De Luca, A.; Memo, L.; Dobyns, W. B.; Mohammed, A. A.; Clokie, S. J. H.; Zazo Seco, C.; Jiang, Y-H; Sørensen, K. P.; Andersen, H.; Sullivan, J.; Powis, Z.; Chassevent, A.; Smith-Hicks, C.; Petrovski, S.; Antoniadi, T.; Shashi, V.; Gelb, B. D.; Wilson, S. W.; Gerrelli, D.; ... view all 34 authors
(2019)

<p>The identification of genetic variants implicated in human developmental disorders has been revolutionized by second-generation sequencing combined with international pooling of cases. Here, we describe seven individuals who have diverse yet overlapping developmental... View more