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

Another patient with MECP2 mutation without classic Rett syndrome phenotype.

Pediatric neurology - 1 May 2005

Milani Donatella, Pantaleoni Chiara, D'Arrigo Stefano, Selicorni Angelo, Riva Daria

Abstract excerpt

Rett syndrome and Angelman syndrome are two neurodevelopmental disorders characterized by partial overlapping features. Rett syndrome is frequently caused by a mutation in methyl-CpG-binding protein (MECP2) gene, localized on chromosome Xq28, whereas Angelman syndrome is frequently caused by different genetic anomalies at chromosome 15q11-q13 (deletions, uniparental disomy, imprinting center mutations, ubiquitin...

Read the complete abstract on PubMed

Topics

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

Share to Angelman Syndrome
Share to Child, Preschool
Share to Chromosomal Proteins, Non-Histone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA-Binding Proteins

Share to Methyl-CpG-Binding Protein 2

Share to Point Mutation

Share to Repressor Proteins

Share to Rett Syndrome

Source

Identifiers

PMID: 15866439
DOI: 10.1016/j.pediatrneurol.2004.12.012

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Another patient with MECP2 mutation without classic Rett syndrome phenotype.PMID 15866439Read ↗

A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1.Semantic proximity Read ↗

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

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.Semantic proximity Read ↗

Brief report: MECP2 mutations in people without Rett syndrome.Semantic proximity Read ↗

Gene symbol: MECP2. Disease: Rett syndrome (atypical).Semantic proximity Read ↗

Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation.Semantic proximity Read ↗

First description of an unusual novel double mutation in MECP2 co-occurring with the m.827A>G mutation in the MT-RNR1 gene associated with angelman-like syndrome.Semantic proximity Read ↗

A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation.Semantic proximity Read ↗

MECP2-Related Disorders in Males.Semantic proximity Read ↗

Atypical features in MECP2 P152R-associated Rett syndrome.Semantic proximity Read ↗

Novel clinical finding in MECP2 duplication syndrome.Semantic proximity Read ↗

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.Semantic proximity Read ↗

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