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Article

A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2.

Brain & development - 1 Dec 2001

Nielsen J B, Ravn K, Schwartz M

Abstract excerpt

Two cases with Rett syndrome (RTT) are presented. One of these is a 77-year-old woman. The occurrence of elderly women with diagnosed RTT is sparse; this may be due to the fact that the clinical traits of RTT often are atypical in adult women and the information about early childhood limited. The finding of mutations in the MECP2 gene in many patients with RTT has provided us with a tool for verification of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11738879
DOI: 10.1016/s0387-7604(01)00365-5

Genes

MECP2

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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