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Article

Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome.

Journal of child neurology - 1 Jan 2002

Chae Jong Hee, Hwang Yong Seung, Kim Ki Joong

Abstract excerpt

Rett syndrome is a progressive neurodevelopmental disorder occurring predominantly in females. Recently, mutations in the MECP2 gene on Xq28, which encodes methyl-CpG binding protein 2, were identified as responsible for some cases of Rett syndrome. In the present study, we analyzed the entire coding sequence of the MECP2 gene in 20 sporadic cases of Rett syndrome in Korea. Of the 20 patients, 14 (70%) had...

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Source

Identifiers

PMID: 11913567
DOI: 10.1177/088307380201700108

Genes

MECP2

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.

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