Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Developmental and Educational Psychology
Link
http://link.springer.com/content/pdf/10.1007/s10803-019-04230-7.pdf
Reference46 articles.
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2. Amir, R., Van den Veyver, I., Wan, M., Tran, C., Francke, U., & Zoghbi, H. (1999). Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics,23(2), 185–188.
3. Archer, H. (2006). CDKL5 mutations cause infantile spasms, early-onset seizures, and severe mental retardation in female patients. Journal of Medical Genetics,43(9), 729–734.
4. Ariani, F., Hayek, G., Rondinella, D., Artuso, R., Mencarelli, M., Spanhol-Rosseto, A., et al. (2008). FOXG1 is responsible for the congenital variant of Rett syndrome. The American Journal of Human Genetics,83(1), 89–93.
5. Baker, S., Chen, L., Wilkins, A., Yu, P., Lichtarge, O., & Zoghbi, H. (2013). An AT-Hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders. Cell,152(5), 984–996.
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1. Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways;OMICS: A Journal of Integrative Biology;2020-03-01
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