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Article

[Molecular genetic study of MECP2 gene for a patient with typical Rett syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2011

Zhu Hai-yan, Hu Ya-li, Zhu Rui-fang, Yang Ying, Zhu Xiang-yu, Wang Wan-jun, Duan Hong-lei

Abstract excerpt

OBJECTIVE: To provide genetic diagnosis and counseling for a 2-year-old girl with typical Rett syndrome through analyzing the methyl-CpG binding protein 2 (MECP2) gene. METHODS: Potential mutation of the MECP2 gene was screened by DNA sequencing and multiplex ligation-dependent probe amplification (MLPA) analysis of members of the family as well as normal controls. Lymphocyte culture for karyotype analysis was...

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Source

Identifiers

PMID: 22161092
DOI: 10.3760/cma.j.issn.1003-9406.2011.06.006

Genes

MECP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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