A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects-Reference-Cited by-同舟云学术

A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects

Published:2016-04-19 Issue:3 Volume:17 Page:173-178
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Beck David B.,Cho Megan T.,Millan Francisca,Yates Carin,Hannibal Mark,O’Connor Bridget,Shinawi Marwan,Connolly Anne M.,Waggoner Darrel,Halbach Sara,Angle Brad,Sanders Victoria,Shen Yufeng,Retterer Kyle,Begtrup Amber,Bai Renkui,Chung Wendy K.

Funder

Simmons Family Foundation

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-016-0482-4.pdf

Reference27 articles.

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3. Gao Z et al. (2014) An AUTS2-Polycomb complex activates gene expression in the CNS. Nature 516(7531):349–354

4. Iglesias A et al. (2014) The usefulness of whole-exome sequencing in routine clinical practice. Genet Med 16(12):922–931

5. Veltman JA, Brunner HG (2012) De novo mutations in human genetic disease. Nat Rev Genet 13(8):565–575

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