Genotype-phenotype implications from three representative clinical FOXG1 variants associated with FOXG1 syndrome
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology,General Medicine
Reference4 articles.
1. Comparative evolutionary analysis of the FoxG1 transcription factor from diverse vertebrates identifies conserved recognition sites for microRNA regulation;Bredenkamp;Dev Genes Evol,2007
2. FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants;Mitter;Genet Med,2018
3. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis;Kortüm;J Med Genet,2011
4. Silico study of Rett syndrome treatment-related genes, MECP2, CDKL5, and FOXG1, by evolutionary classification and disordered region assessment;Fahmi;Int J Mol Sci,2019
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1. Identification of a de novo mutation of the FOXG1 gene and comprehensive analysis for molecular factors in Chinese FOXG1-related encephalopathies;Frontiers in Molecular Neuroscience;2022-12-07
2. Identification of a de novo mutation of FOXG1gene and comprehensive analysis for molecular factors in Chinese FOXG1-related Rett syndrome;2022-08-26
3. FOXG1 variant presenting as unexplained irritability and peculiar crying spells;Seizure;2021-12
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