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Article

The phenotype associated with a large deletion on MECP2.

European journal of human genetics : EJHG - 1 Sept 2012

Bebbington Ami, Downs Jenny, Percy Alan, Pineda Mercé, Zeev Bruria Ben, Bahi-Buisson Nadia, Leonard Helen

Abstract excerpt

Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene allowing genetic confirmation of previously unconfirmed cases of clinical Rett syndrome. This study describes the phenotype of those with a large deletion and compares with those with other pathogenic MECP2 mutations. Individuals were ascertained from the Australian Rett Syndrome...

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Source

Open in PubMed Open full text

Identifiers

PMID: 22473088
DOI: 10.1038/ejhg.2012.34
PMCID: PMC3421119

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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