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Article

MECP2 duplication syndrome in both genders.

Brain & development - 1 May 2013

Shimada Shino, Okamoto Nobuhiko, Ito Masahiro, Arai Yasuhiro, Momosaki Ken, Togawa Masami, Maegaki Yoshihiro, Sugawara Midori, Shimojima Keiko, Osawa Makiko, Yamamoto Toshiyuki

Abstract excerpt

BACKGROUND: Duplications involving the methyl-CpG-binding protein 2 gene (MECP2) locus at Xq28 have been frequently identified in male patients who exhibit a phenotype unique from that of Rett syndrome, which is mainly characterized by severe mental retardation, recurrent infections, and epilepsy. This combination of features is recognized as MECP2 duplication syndrome. METHODS: Genomic copy number was...

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Source

Identifiers

PMID: 22877836
DOI: 10.1016/j.braindev.2012.07.010

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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