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

Homozygosity for MECP2 gene in a girl with classical Rett syndrome.

European journal of medical genetics - 1 Jan 2000

Karall Daniela, Haberlandt Edda, Scholl-Bürgi Sabine, Baumgartner Sara, Naudó Montserrat, Martorell Loreto

Abstract excerpt

We report a 21 year-old girl with classical Rett syndrome (RS) based on clinical diagnosis. The molecular testing of MECP2 gene revealed that the patient is homozygous for a de novo 473C > T mutation, causing the T158M amino acid change. Chromosome analysis showed a normal karyotype, and the haplotype analysis ruled out the possibility of parental disomy or microdeletion in MECP2 gene. Cultured fibroblast...

Read the complete abstract on PubMed

Topics

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

Share to Cells, Cultured
Share to Fibroblasts
Share to Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Karyotyping

Share to Methyl-CpG-Binding Protein 2

Share to Mosaicism

Share to Mutation

Share to Rett Syndrome

Source

Identifiers

PMID: 17881312
DOI: 10.1016/j.ejmg.2007.07.001

Genes

MECP2

Variants

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

Homozygosity for MECP2 gene in a girl with classical Rett syndrome.PMID 17881312Read ↗

Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation.Semantic proximity Read ↗

Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.Semantic proximity Read ↗

[MECP2 gene mutations in twenty-six cases with atypical Rett syndrome].Semantic proximity Read ↗

Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.Semantic proximity Read ↗

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

MECP2 Variant Spectrum and Genotype-Phenotype Correlations in Iranian Rett Syndrome Patients: Identification of a Novel Frameshift Mutation.Semantic proximity Read ↗

MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).Semantic proximity Read ↗

Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications.Semantic proximity Read ↗

Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome.Semantic proximity Read ↗

De novo MECP2 mutation in a 46,XX male patient with Rett syndrome.Semantic proximity Read ↗

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

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

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