The phenotype associated with a large deletion on MECP2
The phenotype associated with a large deletion on MECP2
About this item
Full title
Author / Creator
Publisher
Basingstoke: Nature Publishing Group
Journal title
Language
English
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Publication information
Publisher
Basingstoke: Nature Publishing Group
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Scope and Contents
Contents
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....
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Full title
The phenotype associated with a large deletion on MECP2
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3421119
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3421119
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2012.34
