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Article

Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male.

Brain & development - 1 Aug 2011

Pieras Juan I, Muñoz-Cabello Beatriz, Borrego Salud, Marcos Irene, Sanchez Javier, Madruga Marcos, Antiñolo Guillermo

Abstract excerpt

Rett Syndrome (RS; MIM_312750) is a severe and progressive neurodevelopmental disorder affecting principally females. Mutations in X-Linked MECP2 gene (methyl CpG-binding protein 2; MIM_300005) have been reported as being the major cause of RS. Mutations in this gene have been described as cause...

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Source

Identifiers

PMID: 20970936
DOI: 10.1016/j.braindev.2010.09.012

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20970936-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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