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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Bibliografske podrobnosti
izdano v:Am J Hum Genet
Main Authors: Twigg, Stephen R.F., Forecki, Jennifer, Goos, Jacqueline A.C., Richardson, Ivy C.A., Hoogeboom, A. Jeannette M., van den Ouweland, Ans M.W., Swagemakers, Sigrid M.A., Lequin, Maarten H., Van Antwerp, Daniel, McGowan, Simon J., Westbury, Isabelle, Miller, Kerry A., Wall, Steven A., van der Spek, Peter J., Mathijssen, Irene M.J., Pauws, Erwin, Merzdorf, Christa S., Wilkie, Andrew O.M.
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2015
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4564895/
https://ncbi.nlm.nih.gov/pubmed/26340333
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.07.007
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