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Article

[Clinical phenotypes of classic Rett syndrome].

Revista de neurologia - 1 Feb 2003

Nieto-Barrera M, Nieto-Jiménez M, Siljeström M L

Abstract excerpt

INTRODUCTION: Rett syndrome (RS) is a progressive neurological disorder that is diagnosed by essential, supportive and exclusion clinical criteria, and development takes place in four stages. It has been shown to be caused by de novo mutations of a gene located in the long arm of the dominant X chromosome that codes for the methyl CpG binding protein (MECP2). It has been observed that girls with classic RS (CRS)...

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Identifiers

PMID: 12599117

Genes

MECP2

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Source receipt: pubmed, retrieved 7 Sept 2026.

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