Associated Papers
A novel de novo hemizygous ARHGEF9 mutation associated with severe intellectual disability and epilepsy: a case report.
Qiu T et al.
The Journal of International Medical Research, 2021
ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.
Wang JY et al.
Neurogenetics, 2018
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.
Putoux A et al.
Clinical Genetics, 2016
Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism.
Long P et al.
Frontiers in Molecular Neuroscience, 2015
Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus.
Holman SK et al.
Clinical Genetics, 2013
De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features.
Lesca G et al.
American Journal of Medical Genetics. Part A, 2011
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