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Article

A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene.

Biochemical and biophysical research communications - 3 Jun 2011

Fendri-Kriaa Nourhene, Hsairi Ines, Kifagi Chamseddine, Ellouze Emna, Mkaouar-Rebai Emna, Triki Chahnez, Fakhfakh Faiza

Abstract excerpt

Rett syndrome is an X-linked dominant disorder caused frequently by mutations in the methyl-CpG-binding protein 2 gene (MECP2). Rett patients present an apparently normal psychomotor development during the first 6-18 months of life. Thereafter, they show a short period of developmental stagnation followed by a rapid regression in language and motor development. The aim of this study was to perform a mutational...

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Source

Identifiers

PMID: 21575601
DOI: 10.1016/j.bbrc.2011.04.140

Genes

MECP2
TRD

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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