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Article

Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.

Neurology - 15 Apr 2008

Neul J L, Fang P, Barrish J, Lane J, Caeg E B, Smith E O, Zoghbi H, Percy A, Glaze D G

Abstract excerpt

OBJECTIVE: To determine if a relationship exists between the clinical features of Rett syndrome, an X-linked dominant neurodevelopmental disorder, and specific mutations in MECP2. METHOD: Cross-sectional study of 245 girls and women with typical Rett syndrome seen between 1990 and 2004 in tertiary academic outpatient specialty clinics and who had complete MECP2 mutation analysis. A structured clinical evaluation...

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Source

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Identifiers

PMID: 18337588
DOI: 10.1212/01.wnl.0000291011.54508.aa
PMCID: PMC2677974

Genes

MECP2

Variants

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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