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Article

Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.

European journal of human genetics : EJHG - 1 Aug 2004

Longo Ilaria, Russo Luisa, Meloni Ilaria, Ricci Iolanda, Ariani Francesca, Pescucci Chiara, Giordano Carmela Tiziana, Canitano Roberto, Hayek Giuseppe, Zappella Michele, Neri Giovanni, Renieri Alessandra, Gurrieri Fiorella

Abstract excerpt

Autism and Rett syndrome, a severe neurological disorder with autistic behavior, are classified as separate disorders on clinical and etiological ground. Rett syndrome is a monogenic X-linked dominant condition due to de novo mutations in the MECP2 gene, whereas autism is a neurodevelopmental and...

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Source

Identifiers

PMID: 15069458
DOI: 10.1038/sj.ejhg.5201198

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15069458-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.PMID 15069458Read ↗

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