Associated Papers
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
Mazel B et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2024
FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms.
Wong LC et al.
International Journal of Molecular Sciences, 2019
31454984 (PubMed )
Supplement: ijms-20-04176-s001.pdf
Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy.
Vegas N et al.
Neurology. Genetics, 2018
Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay.
Fryssira H et al.
Molecular Cytogenetics, 2016
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics.
De Filippis R et al.
Clinical Genetics, 2012
FOXG1-Related Disorders: From Clinical Description to Molecular Genetics.
Florian C et al.
Molecular Syndromology, 2012
Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome.
Van der Aa N et al.
Molecular Syndromology, 2011
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
Kortüm F et al.
Journal of Medical Genetics, 2011
A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
Le Guen T et al.
Neurogenetics, 2011
Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.
Bahi-Buisson N et al.
Neurogenetics, 2010
Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females.
Philippe C et al.
Journal of Medical Genetics, 2010
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