MECP2 abnormality phenotypes: clinicopathologic area with broad variability.

doi:10.1177/08830738050200090501

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Article

MECP2 abnormality phenotypes: clinicopathologic area with broad variability.

Journal of child neurology - 1 Sept 2005

Erlandson Anna, Hagberg Bengt

Abstract excerpt

Rett syndrome is a neurodevelopmental disorder that occurs worldwide and predominantly affects girls. The MECP2 gene has been put forward as the underlying gene. Interestingly, other clinical presentations in addition to Rett syndrome have been reported to be the results of deviations in MECP2. This prompted us to outline a working hypothesis of how these diverse phenotypes are connected. Our aim was to summarize...

Topics

Angelman Syndrome
Autistic Disorder
Female
Heterozygote
Humans
Intellectual Disability
Male
Microcephaly
Mutation
Phenotype
Rett Syndrome

Source

Open in PubMed

Identifiers

PMID: 16225826
DOI: 10.1177/08830738050200090501

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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