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Clinical and molecular evaluation of 16 patients with Rett syndrome.

The Turkish journal of pediatrics - 1 Jan 2018

Zengin-Akkuş Pınar, Taşkıran Ekim Z, Kabaçam Serkan, Şimşek-Kiper Pelin Özlem, Haliloğlu Göknur, Boduroğlu Koray, Utine Gülen Eda

Abstract excerpt

Zengin-Akkuş P, Taşkıran EZ, Kabaçam S, Şimşek-Kiper PÖ, Haliloğlu G, Boduroğlu K, Utine GE. Clinical and molecular evaluation of 16 patients with Rett syndrome. Turk J Pediatr 2018; 60: 1-9. Rett syndrome is a neurodevelopmental disorder caused by mutations in MECP2. The disease is characterized by early neurological regression following a normal initial development. The diagnosis is a clinical one, based on...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 30102473
DOI: 10.24953/turkjped.2018.01.001

Genes

MECP2

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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