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Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability.
Mol Syndromol. 2012 Jan;2(2):60-63. doi: 10.1159/000335159. Epub 2011 Dec 20.
Mol Syndromol. 2012.
PMID: 22511892
Free PMC article.
Absent CNKSR2 causes seizures and intellectual, attention, and language deficits.
Vaags AK, Bowdin S, Smith ML, Gilbert-Dussardier B, Brocke-Holmefjord KS, Sinopoli K, Gilles C, Haaland TB, Vincent-Delorme C, Lagrue E, Harbuz R, Walker S, Marshall CR, Houge G, Kalscheuer VM, Scherer SW, Minassian BA.
Vaags AK, et al.
Ann Neurol. 2014 Nov;76(5):758-64. doi: 10.1002/ana.24274. Epub 2014 Oct 4.
Ann Neurol. 2014.
PMID: 25223753
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CNKSR2 deletions: a novel cause of X-linked intellectual disability and seizures.
Aypar U, Wirrell EC, Hoppman NL.
Aypar U, et al.
Am J Med Genet A. 2015 Jul;167(7):1668-70. doi: 10.1002/ajmg.a.36902. Epub 2015 Mar 5.
Am J Med Genet A. 2015.
PMID: 25754917
No abstract available.
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