Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis
Author:
Funder
FONDECYT-Chile
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics (clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13023-019-1170-x.pdf
Reference21 articles.
1. McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, JAS V, et al. 22Q11.2 Deletion Syndrome. Nat Rev Dis Prim. 2015;1:e15071.
2. Bittel DC, Yu S, Newkirk H, Kibiryeva N, Holt a, Butler MG, et al. Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH. Cytogenet Genome Res. 2009;124:113–20.
3. Emanuel BS. Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. Dev Disabil Res Rev. 2008;14:11–8.
4. Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, et al. Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature. 2001;410:97–101.
5. Paylor R, Glaser B, Mupo A, Ataliotis P, Spencer C, Sobotka A, et al. Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc Natl Acad Sci U S A. 2006;103:7729–34.
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