4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference12 articles.
1. FOXG1 is responsible for the congenital variant of Rett syndrome;Ariani;Am. J. Hum. Genet.,2008
2. Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features;Bisgaard;Am. J. Med. Genet.,2006
3. 14q12 Microdeletion syndrome and congenital variant of Rett syndrome;Mencarelli;Eur. J. Med. Genet.,2009
4. A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features;Papa;Am. J. Med. Genet.,2008
5. Integrated detection and population-genetic analysis of SNPs and copy number variation;McCarroll;Nat. Genet.,2008
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3. Developmental trajectories of GABAergic cortical interneurons are sequentially modulated by dynamic FoxG1 expression levels;Proceedings of the National Academy of Sciences;2024-04-08
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