Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.

Human mutation - 1 Aug 2003

Miltenberger-Miltenyi Gabriel, Laccone Franco

Abstract excerpt

Rett syndrome (RTT or RS) is a neurodevelopmental disorder and one of the most frequent genetic diseases in girls. Mutations of the MECP2 gene have been found in a variety of different RTT phenotypes. The MECP2 gene (Xq28) has been described in 1992. Up to now, 218 different mutations have been reported in a total group, of more than 2,100 patients. Mutations in the MECP2 gene are responsible for up to 75% of the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomal Proteins, Non-Histone
Share to CpG Islands
Share to DNA-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Methyl-CpG-Binding Protein 2

Share to Mutation

Share to Polymorphism, Genetic

Share to Repressor Proteins

Share to Rett Syndrome

Source

Identifiers

PMID: 12872250
DOI: 10.1002/humu.10243

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.PMID 12872250Read ↗

Spectrum of MECP2 mutations in Rett syndrome.Semantic proximity Read ↗

A RETT SYNDROME CASE WITH NOVEL NON-IDENTICAL MUTATION IN MECP2 GENE.Semantic proximity Read ↗

MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern.Semantic proximity Read ↗

Two novel mutations in the MECP2 gene in patients with Rett syndrome.Semantic proximity Read ↗

Rett syndrome and MeCP2.Semantic proximity Read ↗

MECP2-Related Disorders in Males.Semantic proximity Read ↗

Rett syndrome in Spain: mutation analysis and clinical correlations.Semantic proximity Read ↗

Rett syndrome: from the gene to the disease.Semantic proximity Read ↗

Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.Semantic proximity Read ↗

Spectrum of MECP2 mutations in Rett syndrome.Semantic proximity Read ↗

DNA methylation and Rett syndrome.Semantic proximity Read ↗

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.