Condition: FOXG1 syndrome
rs1555321206 in
FOXG1 gene and
FOXG1 syndrome
PMID 24836831 2014 Epilepsy and outcome in FOXG1-related disorders.
PMID 18571142 2008 FOXG1 is responsible for the congenital variant of Rett syndrome.
PMID 27029630 2016 Delineation of the movement disorders associated with FOXG1 mutations.
PMID 19578037 2010 Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.
PMID 21280142 2011 A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization.
PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.
PMID 28851325 2017 Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation.
PMID 26344814 2016 The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.
PMID 19806373 2010 Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.
PMID 21441262 2011 The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
PMID 19564653 2010 Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females.
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
PMID 22739344 2012 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.
PMID 22091895 2012 Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics.
PMID 24901346 2014 The usefulness of whole-exome sequencing in routine clinical practice.