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Article

Rett syndrome: a neurological disorder with metabolic components.

Open biology - 1 Feb 2018

Kyle Stephanie M, Vashi Neeti, Justice Monica J

Abstract excerpt

Rett syndrome (RTT) is a neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2), a ubiquitously expressed transcriptional regulator. Despite remarkable scientific progress since its discovery, the mechanism by which MECP2 mutations cause RTT symptoms is largely unknown. Consequently, treatment options for patients are currently limited and centred on symptom relief....

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Identifiers

PMID: 29445033
DOI: 10.1098/rsob.170216
PMCID: PMC5830535

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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