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 features and MECP2 mutations in children with Rett syndrome].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Apr 2014

Zhao Pei-Wei, He Xue-Lian, Lin Jun, Wu Ge-Fei, Yue Xin, Bi Bo, Hu Jia-Sheng, Liu Zhi-Sheng

Abstract excerpt

OBJECTIVE: To study the clinical features and mutations in methyl-CpG-binding protein 2 (MECP2) gene among children with classical Rett syndrome in China. METHODS: PCR and direct sequencing were employed to analyze the three exons of MECP2 gene in 9 children recently diagnosed with Rett syndrome and their parents. RESULTS: Heterozygous mutations were identified in 5 out of 9 patients, with a mutation rate of over...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to MECP2 gene

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to TRD gene

Share to Infant

Share to Language Development

Share to Methyl-CpG-Binding Protein 2

Share to Mutation

Share to Rett Syndrome

Source

Identifiers

PMID: 24750837

Genes

MECP2
TRD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical features and MECP2 mutations in children with Rett syndrome].PMID 24750837Read ↗

[Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome].Semantic proximity Read ↗

Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms.Semantic proximity Read ↗

[Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients].Semantic proximity Read ↗

MECP2 mutation spectrum and its clinical characteristics in a Chinese cohort.Semantic proximity Read ↗

[Rett syndrome: clinical and molecular aspects].Semantic proximity Read ↗

Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation.Semantic proximity Read ↗

Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.Semantic proximity Read ↗

[Mutational analysis of MECP2 gene in Rett syndrome].Semantic proximity Read ↗

[Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients].Semantic proximity Read ↗

Rett Syndrome: A Timely Review From Recognition to Current Clinical Approaches and Clinical Study Updates.Semantic proximity Read ↗

MECP2 Mutations in the Rett Syndrome Patients from South India.Semantic proximity Read ↗

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

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