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Article

Investigation of modifier genes within copy number variations in Rett syndrome.

Journal of human genetics - 1 Jul 2011

Artuso Rosangela, Papa Filomena T, Grillo Elisa, Mucciolo Mafalda, Yasui Dag H, Dunaway Keith W, Disciglio Vittoria, Mencarelli Maria A, Pollazzon Marzia, Zappella Michele, Hayek Giuseppe, Mari Francesca, Renieri Alessandra, Lasalle Janine M, Ariani Francesca

Abstract excerpt

MECP2 mutations are responsible for two different phenotypes in females, classical Rett syndrome and the milder Zappella variant (Z-RTT). We investigated whether copy number variants (CNVs) may modulate the phenotype by comparison of array-CGH data from two discordant pairs of sisters and four additional discordant pairs of unrelated girls matched by mutation type. We also searched for potential MeCP2 targets...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 21593744
DOI: 10.1038/jhg.2011.50
PMCID: PMC3145144

Genes

CROCC
CFHR1
CFHR3
GPRIN2
MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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