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Article

Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome.

BMC medical genetics - 6 Aug 2018

Le Thi Thanh Huong, Do Thi Diem Trinh, Duy Chinh Vu, Thanh Ha Ly Thi, Phuong Hoa Bui Thi, Thanh Liem Nguyen

Abstract excerpt

BACKGROUND: Rett syndrome (RTT) is a severe neurodevelopmental disorder in children characterized by a normal neurodevelopmental process in the first 6-18 months followed by a period of motor and vocal deterioration with stereotypic hand movements. Incidence of RTT is mostly due to de novo mutation in the MECP2 gene (methyl-CpG-binding protein 2). METHODS: The study assessed 27 female patients presented with...

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Identifiers

PMID: 30081849
DOI: 10.1186/s12881-018-0658-x
PMCID: PMC6090653

Genes

MECP2

Variants

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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