Variant: rs796052462 

    present in Gene: FOXG1
    present in Chromosome: 14
    Position on Chromosome: 28767840
    Alleles of this Variant: C/A;G

rs796052462 in FOXG1 gene and Dysmorphic features PMID 28544139 2017 RettBASE: Rett syndrome database update.

PMID 19578037 2010 Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

PMID 18571142 2008 FOXG1 is responsible for the congenital variant of Rett syndrome.

PMID 24766421 2014 Somatic mosaicism for a FOXG1 mutation: diagnostic implication.

PMID 25565401 2015 Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy.

PMID 26364767 2015 Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

PMID 21441262 2011 The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.

PMID 24836831 2014 Epilepsy and outcome in FOXG1-related disorders.

PMID 27029630 2016 Delineation of the movement disorders associated with FOXG1 mutations.

PMID 27640358 2016 Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.

PMID 26344814 2016 The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.

PMID 22998673 2012 Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.

PMID 20356955 2010 FoxG1 and TLE2 act cooperatively to regulate ventral telencephalon formation.

PMID 2760358 1989 Prospective observations on stopping prolonged venom immunotherapy.

PMID 27001178 2016 Visual impairment in FOXG1-mutated individuals and mice.

rs796052462 in FOXG1 gene and Multiple congenital anomalies PMID 24836831 2014 Epilepsy and outcome in FOXG1-related disorders.

PMID 25565401 2015 Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy.

PMID 20356955 2010 FoxG1 and TLE2 act cooperatively to regulate ventral telencephalon formation.

PMID 18571142 2008 FOXG1 is responsible for the congenital variant of Rett syndrome.

PMID 19578037 2010 Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

PMID 22998673 2012 Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.

PMID 24766421 2014 Somatic mosaicism for a FOXG1 mutation: diagnostic implication.

PMID 26364767 2015 Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

PMID 27029630 2016 Delineation of the movement disorders associated with FOXG1 mutations.

PMID 21441262 2011 The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.

PMID 2760358 1989 Prospective observations on stopping prolonged venom immunotherapy.

PMID 27001178 2016 Visual impairment in FOXG1-mutated individuals and mice.

PMID 27640358 2016 Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.

PMID 28544139 2017 RettBASE: Rett syndrome database update.

PMID 26344814 2016 The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.