articleTop 1% cited
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Nature Genetics · 1999 · Vol. 23(2) · pp. 185–188
Ruthie E. Amir(Baylor College of Medicine)Ignatia B. Van den Veyver(Baylor College of Medicine)Mimi Wan(Stanford University)Charles Q. Tran(Baylor College of Medicine)Uta Francke(Howard Hughes Medical Institute)Huda Y. Zoghbi✉(Baylor College of Medicine)
Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchEpigenetics and DNA MethylationMECP2Rett syndromeBiologyGeneticsFrameshift mutationMissense mutationNonsense mutationNeurodevelopmental disorderMutationGene
MeSH terms
Amino Acid SequenceBase SequenceChromosomal Proteins, Non-HistoneDNADNA Mutational AnalysisDNA-Binding ProteinsFamily HealthFemaleHumansGenetic LinkageMaleMolecular Sequence DataMutationPedigreeRepressor Proteins
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References
Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription
Nature Genetics · 1998 · 2,718 citations
Rett's Syndrome: Prevalence and Impact on Progressive Severe Mental Retardation in Girls
Acta Paediatrica · 1985 · 281 citations
A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases
Annals of Neurology · 1983 · 1,513 citations
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