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Article

Odd MECP2-mutated Rett variant-long-term follow-up profile to age 25.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2003

Hagberg Bengt, Erlandsson Anna, Kyllerman Mårten, Larsson Gunillla

Abstract excerpt

A 25-year-old MECP2-mutated female with odd developmental and dyspraxic/ataxic features, followed up through two decades, is reported. She does not fit either the classical Rett syndrome or the criteria required for any Rett variant phenotypes so far described. Nevertheless, she belongs clinically to the latter group. This case deserves attention in order, among other things, to provide important clues to better...

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Source

Identifiers

PMID: 14623222
DOI: 10.1016/j.ejpn.2003.09.003

Genes

MECP2

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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