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Article

Mutational analysis of methyl-CpG binding protein 2 (MECP2) gene in Indian cases of Rett syndrome.

Journal of clinical laboratory analysis - 1 Mar 2013

Das Dhanjit Kumar, Udani Vrajesh, Sanghavi Daksha, Adhia Rashmi, Maitra Anurupa

Abstract excerpt

Rett syndrome (RTT) is an X-linked postnatal neurological disorder, primarily affecting females and characterized by regression, epilepsy, stereotypical hand movements, and motor abnormalities. Its prevalence is about 1 in 10,000 female births. RTT is caused by mutations within methyl CpG-binding protein 2 (MECP2) gene. Over 200 individual nucleotide changes in the gene, which cause pathogenic mutations, have...

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Source

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Identifiers

PMID: 23400946
DOI: 10.1002/jcla.21574
PMCID: PMC6807519

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.

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