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Article

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.

European journal of human genetics : EJHG - 1 Dec 2007

Hardwick Simon A, Reuter Kirsten, Williamson Sarah L, Vasudevan Vidya, Donald Jennifer, Slater Katrina, Bennetts Bruce, Bebbington Ami, Leonard Helen, Williams Simon R, Smith Robert L, Cloosterman Desiree, Christodoulou John

Abstract excerpt

Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations in up to 95% of classical Rett syndrome (RTT) patients. This high rate of mutation detection can partly be attributed to specialised techniques that have enabled the detection of large deletions in a substantial fraction of otherwise mutation-negative patients. These cases would...

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Source

Identifiers

PMID: 17712354
DOI: 10.1038/sj.ejhg.5201911

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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