Gain-of-function mutations in ZIC1 are associated with coronal craniosynostosis and learning disability

Human ZIC1 (zinc finger protein of cerebellum 1), one of five homologs of the Drosophila pair-rule gene odd-paired, encodes a transcription factor previously implicated in vertebrate brain development. Heterozygous deletions of ZIC1 and its nearby paralog ZIC4 on chromosome 3q25.1 are associated wit...

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Bibliographic Details
Main Authors: Twigg, S, Forecki, J, Goos, J, Richardson, I, Hoogeboom, A, van den Ouweland, A, Swagemakers, S, Lequin, M, Van Antwerp, D, McGowan, S, Westbury, I, Miller, K, Wall, S, van der Spek, P, Mathijssen, I, Pauws, E, Merzdorf, C, Wilkie, A
Format: Journal article
Language:English
Published: Cell Press 2015