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[Mutation spectrum and genotype-phenotype correlation of MECP2 in patients with Rett syndrome].

No to hattatsu = Brain and development - 1 May 2002

Kondo Ikuko, Yamagata Hidehisa

Abstract excerpt

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder characterized by regression in cognition and adaptability with autistic behavior, stereotypical hand movements, epilepsy and ataxia. Over 120 different mutations in the methyl-CpG binding protein 2 gene (MECP2) have been reported in patients with RTT, but a genotype-phenotype correlation has not been established. We have studied MECP2...

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Source

Identifiers

PMID: 12030010

Genes

MECP2

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.

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