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

Clinical variability in Rett syndrome.

Journal of child neurology - 1 Oct 2003

Naidu SakkuBai, Bibat Genila, Kratz Lisa, Kelley Richard I, Pevsner Jonathan, Hoffman Eric, Cuffari Carmen, Rohde Charles, Blue Mary E, Johnston Michael V

Abstract excerpt

The clinical variability of Rett syndrome, associated with mutations in the MECP2 gene, varies from classically symptomatic female patients to asymptomatic female patients, and male patients who have none of the diagnostic features considered pathognomonic of this disease. Multiple factors contri...

Read the complete abstract on PubMed

Topics

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

Share to Cerebellum
Share to Chromosomal Proteins, Non-Histone
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dosage Compensation, Genetic

Share to Methyl-CpG-Binding Protein 2

Share to Receptors, N-Methyl-D-Aspartate

Share to Rett Syndrome

Share to Severity of Illness Index

Source

Identifiers

PMID: 14649546
DOI: 10.1177/08830738030180100801

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14649546-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical variability in Rett syndrome.PMID 14649546Read ↗

MECP2 abnormality phenotypes: clinicopathologic area with broad variability.Semantic proximity Read ↗

Epigenetic Dysregulation in Rett Syndrome: Multisystem Pathophysiology, MECP2 Isoform-Specific Mechanisms, and Targeted Therapeutic StrategiesSemantic proximity Read ↗

Epigenetic Dysregulation in Rett Syndrome: Multisystem Pathophysiology, MECP2 Isoform-Specific Mechanisms, and Targeted Therapeutic StrategiesSemantic proximity Read ↗

Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition.Semantic proximity Read ↗

Rett syndrome: revised diagnostic criteria and nomenclature.Semantic proximity Read ↗

Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder.Semantic proximity Read ↗

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.Semantic proximity Read ↗

[Rett syndrome: from pathophysiology to developments in treatment].Semantic proximity Read ↗

Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome.Semantic proximity Read ↗

Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.Semantic proximity Read ↗

Rett syndrome: clinical review and genetic update.Semantic proximity Read ↗

Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.Semantic proximity Read ↗

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