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Article

Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.

Journal of human genetics - 1 Jan 2000

Amano K, Nomura Y, Segawa M, Yamakawa K

Abstract excerpt

Rett syndrome is a neurodevelopmental disorder observed almost exclusively in girls, and is characterized by autistic tendency, severe mental retardation, stereotyped hand movements, seizures, and acquired microcephaly. Recently, the MECP2 (methyl-CpG-binding protein 2) gene, mapped on chromosome Xq28, was reported to be responsible for Rett syndrome. We performed mutational analysis of the MECP2 gene in 26...

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Source

Identifiers

PMID: 10944854
DOI: 10.1007/s100380070032

Genes

MECP2
TRD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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