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Article

MECP2 mutation analysis in patients with mental retardation.

American journal of medical genetics. Part A - 15 Jan 2005

Ylisaukko-Oja Tero, Rehnström Karola, Vanhala Raija, Kempas Elli, von Koskull Harriet, Tengström Carola, Mustonen Aki, Ounap Katrin, Lähdetie Jaana, Järvelä Irma

Abstract excerpt

Mutations in the methyl-CpG-binding protein 2 (MECP2) gene are known to underlie Rett' syndrome, the most common cause of mental retardation (MR) in girls. Since the original report, phenotypes resulting from MECP2 mutations have been shown to extend, for example, to several Rett variants, autism, atypical Angelman syndrome, and nonspecific MR. It was earlier proposed that MECP2 mutations might account for...

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Share to Chromosomal Proteins, Non-Histone
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15578581
DOI: 10.1002/ajmg.a.30416

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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