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Article

RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution.

Human mutation - 1 May 2003

Christodoulou John, Grimm Andrew, Maher Tony, Bennetts Bruce

Abstract excerpt

Rett syndrome (RTT) is a neurodevelopmental disorder affecting primarily females, with an incidence of around 1 in 15,000 females. In 1999, mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2) were first reported in RTT subjects, and since that time there have been a number of publications describing cohorts of patients and their mutations. In addition, MECP2 mutations have been reported in...

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Source

Identifiers

PMID: 12673788
DOI: 10.1002/humu.10194

Genes

MECP2

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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