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Article

Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients.

Journal of child neurology - 1 May 2012

Fendri-Kriaa Nourhene, Rouissi Aida, Ghorbel Rania, Mkaouar-Rebai Emna, Belguith Neila, Gouider-Khouja Naziha, Fakhfakh Faiza

Abstract excerpt

Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder in females, is caused mainly by de novo mutations in the methyl-CpG-binding protein 2 gene (MECP2). Rett patients present an apparently normal psychomotor development during the first 6 to 18 months of life. Thereafter, they show a short period of developmental stagnation followed by a rapid regression in language and motor development. In the...

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Source

Identifiers

PMID: 21940684
DOI: 10.1177/0883073811420496

Genes

MECP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients.PMID 21940684Read ↗

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