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Article

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.

Journal of medical genetics - 1 Apr 2001

Watson P, Black G, Ramsden S, Barrow M, Super M, Kerr B, Clayton-Smith J

Abstract excerpt

Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe mental retardation, absent speech, ataxia, sociable affect, and dysmorphic facial features. Eighty five percent of patients with AS have an identifiable genetic abnormality of chromosome 15q11-13. Mutations within the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 11283202
DOI: 10.1136/jmg.38.4.224
PMCID: PMC1734853

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11283202-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.PMID 11283202Read ↗

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