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Nature Genetics  37, 10 - 11 (2005)
doi:10.1038/ng0105-10

Is Rett syndrome a loss-of-imprinting disorder?

Chiara Pescucci, Ilaria Meloni & Alessandra Renieri

Chiara Pescucci, Ilaria Meloni and Alessandra Renieri are in the Medical Genetics Unit, Department of Molecular Biology, University of Siena, Italy. renieri@unisi.it

Most cases of Rett syndrome are caused by mutations in MECP2. Transcriptional profiling analyses of the brains of individuals with Rett syndrome have not provided consistent data about genes that are silenced by MECP2. A new study finds loss of imprinting of a maternally imprinted gene, DLX5, both in Mecp2-null mice and in some lymphoblastoid cell lines obtained from individuals with Rett syndrome.

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Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
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