Associated Papers
Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Fang X et al.
Molecular Genetics & Genomic Medicine, 2022
MECP2-related conditions in males: A systematic literature review and 8 additional cases.
Inuzuka LM et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2021
Methyl-CpG-binding protein 2 mediates overlapping mechanisms across brain disorders.
Bach S et al.
Scientific Reports, 2020
33335218 (PubMed )
Supplement: 41598_2020_79268_MOESM1_ESM.xlsx › Table_S4
Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation.
Wen Z et al.
Molecular Autism, 2017
Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome?
McWilliam C et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2010
A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype.
Adegbola AA et al.
Human Genetics, 2009
Select a paper to view details