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Article

[Clinical feature of Rett syndrome and MeCP2 genotype/phenotype correlation analysis].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Apr 2004

Bao Xin-hua, Pan Hong, Song Fu-ying, Wu Xi-ru

Abstract excerpt

OBJECTIVE: Rett syndrome (RTT) is a neurodevelopmental disorder which causes severe mental retardation. This study aimed at elucidating clinical features of 66 Chinese RTT cases diagnosed by The Department of Pediatric Neurology, Peking University First Hospital since 1987, and at analysis of the MeCP2 genotype / phenotype correlation. METHODS: Sixty-six RTT cases were followed up every one to two years to get...

Topics

Adolescent
Carnitine
Child
Child, Preschool
Chromosomal Proteins, Non-Histone
DNA Mutational Analysis
DNA-Binding Proteins
Female
Follow-Up Studies
Genotype
Hospitals, University

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Infant

Male

Methyl-CpG-Binding Protein 2

Mutation

Phenotype

Repressor Proteins

Source

Identifiers

PMID: 15157382

Provenance

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