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Article

MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings.

Neuropediatrics - 1 Feb 2002

Geerdink N, Rotteveel J J, Lammens M, Sistermans E A, Heikens G T, Gabreëls F J M, Mullaart R A, Hamel B C J

Abstract excerpt

We describe the clinical and neuropathological presentation of a male with an MECP2 mutation whose sister has Rett syndrome (RS). He presented with severe neonatal encephalopathy and died at the age of 13 months. Mutation analysis of the MECP2 gene demonstrated a 488 - 489 del mutation in his and...

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Source

Identifiers

PMID: 11930274
DOI: 10.1055/s-2002-23598

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11930274-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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