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Article

Atypical features in MECP2 P152R-associated Rett syndrome.

Pediatric neurology - 1 Aug 2013

Sheen Volney, Valencia Isaac M, Torres Alcy R

Abstract excerpt

BACKGROUND: Rett syndrome is a neurodevelopmental disorder that occurs in individuals with a mutation in the X-linked methyl-CpG-binding protein 2 (2MECP2) gene. 2MECP2 mutations produce a high degree of variability in the clinical phenotypes including the classic Rett features of head growth deceleration, psychomotor regression, deviant communicative ability, hand stereotypes, autonomic dysfunction, and...

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Source

Identifiers

PMID: 23859859
DOI: 10.1016/j.pediatrneurol.2012.12.037

Genes

MECP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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