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Article

Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.

American journal of medical genetics. Part A - 15 Oct 2003

Hammer Sara, Dorrani Naghmeh, Hartiala Jaana, Stein Stuart, Schanen N Carolyn

Abstract excerpt

Rett syndrome is caused by mutation in MECP2, a gene located on Xq28 and subject to X-inactivation. MECP2 encodes methyl CpG-binding protein 2, a widely expressed transcriptional repressor of methylated DNA. Mutations in MECP2 are primarily de novo events in the male germ line and thus lead to an...

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Source

Identifiers

PMID: 12966522
DOI: 10.1002/ajmg.a.20320

Genes

MECP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12966522-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome.Semantic proximity Read ↗

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