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Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.
Basel-Vanagaite L, Hershkovitz T, Heyman E, Raspall-Chaure M, Kakar N, Smirin-Yosef P, Vila-Pueyo M, Kornreich L, Thiele H, Bode H, Lagovsky I, Dahary D, Haviv A, Hubshman MW, Pasmanik-Chor M, Nürnberg P, Gothelf D, Kubisch C, Shohat M, Macaya A, Borck G. Basel-Vanagaite L, et al. Am J Hum Genet. 2013 Sep 5;93(3):524-9. doi: 10.1016/j.ajhg.2013.07.005. Epub 2013 Aug 8. Am J Hum Genet. 2013. PMID: 23932106 Free PMC article.
SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system.
Birk E, Har-Zahav A, Manzini CM, Pasmanik-Chor M, Kornreich L, Walsh CA, Noben-Trauth K, Albin A, Simon AJ, Colleaux L, Morad Y, Rainshtein L, Tischfield DJ, Wang P, Magal N, Maya I, Shoshani N, Rechavi G, Gothelf D, Maydan G, Shohat M, Basel-Vanagaite L. Birk E, et al. Am J Hum Genet. 2010 Nov 12;87(5):694-700. doi: 10.1016/j.ajhg.2010.10.005. Epub 2010 Oct 28. Am J Hum Genet. 2010. PMID: 21035105 Free PMC article.
Genotype-phenotype correlation in 22q11.2 deletion syndrome.
Michaelovsky E, Frisch A, Carmel M, Patya M, Zarchi O, Green T, Basel-Vanagaite L, Weizman A, Gothelf D. Michaelovsky E, et al. BMC Med Genet. 2012 Dec 17;13:122. doi: 10.1186/1471-2350-13-122. BMC Med Genet. 2012. PMID: 23245648 Free PMC article.
110 results