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Article

MECP2-Related Disorders in Males.

International journal of molecular sciences - 4 Sept 2021

Pascual-Alonso Ainhoa, Martínez-Monseny Antonio F, Xiol Clara, Armstrong Judith

Abstract excerpt

Methyl CpG binding protein 2 (MECP2) is located at Xq28 and is a multifunctional gene with ubiquitous expression. Loss-of-function mutations in MECP2 are associated with Rett syndrome (RTT), which is a well-characterized disorder that affects mainly females. In boys, however, mutations in MECP2 can generate a wide spectrum of clinical presentations that range from mild intellectual impairment to severe neonatal...

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Identifiers

PMID: 34502518
DOI: 10.3390/ijms22179610
PMCID: PMC8431762

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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