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Article

[Genetic features and mechanism of Rett syndrome in Chinese population].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2014

Zhang Xiaoying, Zhao Ying, Bao Xinhua, Zhang Jingjing, Cao Guangna, Wu Xiru

Abstract excerpt

OBJECTIVE: To analyze the genetic characteristics and molecular mechanism of Chinese patients with Rett syndrome (RTT) and assess the recurrent risk in order to provide genetic counseling for the family with RTT patient. METHODS: Methyl-CpG-binding protein 2 (MECP2) gene mutation analysis were performed on 405 Chinese RTT cases and 292 mothers of the patients with MECP2 mutations with polymerase chain reaction...

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Source

Identifiers

PMID: 24510551
DOI: 10.3760/cma.j.issn.1003-9406.2014.01.001

Genes

MECP2
CDKL5
FOXG1

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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