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Article

Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2.

Brain & development - 1 Aug 2012

Kobayashi Yu, Ohashi Tsukasa, Akasaka Noriyuki, Tohyama Jun

Abstract excerpt

Rett syndrome (RTT) is a neurodevelopmental disorder that is one of the most common causes of mental retardation in females. RTT diagnosis is based on distinct clinical criteria. We describe here a female patient with severe phenotype of congenital variant RTT. The patient originally presented with severe developmental delay prior to the age of 6 months and later exhibited characteristic features of RTT that...

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Share to Comparative Genomic Hybridization
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22001500
DOI: 10.1016/j.braindev.2011.09.014

Genes

MECP2

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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