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Article

Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.

Journal of medical genetics - 1 Jul 2001

Villard L, Lévy N, Xiang F, Kpebe A, Labelle V, Chevillard C, Zhang Z, Schwartz C E, Tardieu M, Chelly J, Anvret M, Fontès M

Abstract excerpt

BACKGROUND: Rett syndrome is a neurodevelopmental disorder affecting only girls; 99.5% of Rett syndrome cases are sporadic, although several familial cases have been reported. Mutations in the MECP2 gene were identified in approximately 70-80% of sporadic Rett syndrome cases. METHODS: We have screened the MECP2 gene coding region for mutations in five familial cases of Rett syndrome and studied the patterns of X...

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Share to Chromosomal Proteins, Non-Histone
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Dosage Compensation, Genetic

Share to Fragile X Mental Retardation Protein

Share to Methyl-CpG-Binding Protein 2

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Share to Receptors, Androgen

Share to Rett Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 11432961
DOI: 10.1136/jmg.38.7.435
PMCID: PMC1757181

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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Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.PMID 11432961Read ↗

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