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Article

Rett syndrome: clinical and epidemiological aspects in a Brazilian institution.

Arquivos de neuro-psiquiatria - 1 Dec 2003

Pozzi Cristina M, Rosemberg Sergio

Abstract excerpt

Rett syndrome (RS) is a neurodevelopmental disorder, preferentially found in females and specifically involving the functions on which intelligence and its expression depend--learning, hand use and speech--leaving many others intact. Mutations have been identified at Xq28 on the MECP2 gene (methyl-CpG 2), which selectively silences the expression of other genes whose location is still unknown. This is a study on...

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Identifiers

PMID: 14762589
DOI: 10.1590/s0004-282x2003000600004

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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