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Article

[Mutational analysis of the MECP2 gene by direct sequencing in Hungarian patients with Rett syndrome].

Orvosi hetilap - 25 Apr 2004

Kárteszi Judit, Hollódy Katalin, Bene Judit, Morava Eva, Hadzsiev Kinga, Czakó Márta, Melegh Béla, Kosztolányi György

Abstract excerpt

INTRODUCTION: Rett syndrome is an X-linked neurodevelopmental disorder characterized by loss of acquired skills and stereotypical hand movements. Mutations in the gene encoding methyl-CpG-binding protein 2 have been identified as cause of Rett syndrome in 1999. AIM: The authors initialized mutation screening of this gene in Hungarian patients identified on the base of clinical manifestation in various institutes....

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Source

Identifiers

PMID: 15170968

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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