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Article

Recent insights into genotype-phenotype relationships in patients with Rett syndrome using a fine grain scale.

Research in developmental disabilities - 1 Nov 2014

Fabio Rosa Angela, Colombo Barbara, Russo Silvia, Cogliati Francesca, Masciadri Maura, Foglia Silvia, Antonietti Alessandro, Tavian Daniela

Abstract excerpt

Mutations in MECP2 gene cause Rett syndrome (RTT), a neurodevelopmental disorder affecting around 1 in 10,000 female births. The clinical picture of RTT appears quite heterogeneous for each single feature. Mutations in MECP2 gene have been associated with the onset of RTT. The most known gene fun...

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Source

Identifiers

PMID: 25124696
DOI: 10.1016/j.ridd.2014.07.031

Genes

MECP2
TRD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25124696-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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