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Article

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome.

American journal of medical genetics. Part A - 1 Feb 2015

Urbanowicz Anna, Downs Jenny, Girdler Sonya, Ciccone Natalie, Leonard Helen

Abstract excerpt

This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome. Cross-sectional data on 766 girls, aged 15 years and under, with genetically confirmed Rett syndrome was obtained from the Australian Rett Syndrome Database (ARSD) (n = 244) and the International Rett Syndrome Phenotype Database (InterRett) (n = 522)....

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Source

Identifiers

PMID: 25428820
DOI: 10.1002/ajmg.a.36871

Genes

MECP2
ARSD

Variants

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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