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Article

Rett syndrome in Ireland: a demographic study.

Orphanet journal of rare diseases - 31 Jan 2024

Zade Komal, Campbell Ciara, Bach Snow, Fernandes Hazel, Tropea Daniela

Abstract excerpt

BACKGROUND: Rett syndrome (RTT) is a rare neurodevelopmental condition associated with mutations in the gene coding for the methyl-CpG-binding protein 2 (MECP2). It is primarily observed in girls and affects individuals globally. The understanding of the neurobiology of RTT and patient management has been improved by studies that describe the demographic and clinical presentation of individuals with RTT. However,...

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Source

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Identifiers

PMID: 38291497
DOI: 10.1186/s13023-024-03046-8
PMCID: PMC10829226

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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