Questionable pathogenicity of FOXG1 duplication
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg2011267.pdf
Reference8 articles.
1. Brunetti-Pierri N, Paciorkowski AR, Ciccone R et al: Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet 2011; 19: 102–107.
2. Yeung A, Bruno D, Scheffer IE et al: 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment. Eur J Med Genet 2009; 52: 440–442.
3. Striano P, Paravidino R, Sicca F et al: West syndrome associated with 14q12 duplications harboring FOXG1. Neurology 2011; 76: 1600–1602.
4. Tohyama J, Yamamoto T, Hosoki K et al: West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14. Am J Med Genet 2011; 155: 2584–2588.
5. Hanashima C, Li SC, Shen L, Lai E, Fishell G : Foxg1 suppresses early cortical cell fate. Science (New York, NY) 2004; 303: 56–59.
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