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Article

Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.

Journal of human genetics - 1 Mar 2011

Hadzsiev Kinga, Polgar Noemi, Bene Judit, Komlosi Katalin, Karteszi Judit, Hollody Katalin, Kosztolanyi Gyorgy, Renieri Alessandra, Melegh Bela

Abstract excerpt

Rett syndrome (RTT) is characterized by a relatively specific clinical phenotype. We screened 152 individuals with RTT phenotype. A total of 22 different known MECP2 mutations were identified in 42 subjects (27.6%). Of the 22 mutations, we identified 7 (31.8%) frameshift-causing deletions, 4 (18....

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Source

Identifiers

PMID: 21160487
DOI: 10.1038/jhg.2010.156

Genes

CDKL5
MECP2
FOXG1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21160487-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.PMID 21160487Read ↗

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