Article
Rett syndrome in Spain: mutation analysis and clinical correlations.
Brain & development - 1 Dec 2001
Monrós E, Armstrong J, Aibar E, Poo P, Canós I, Pineda M
Abstract excerpt
Rett syndrome (RTT) is an X-linked neurodevelopmental disease that affects girls almost exclusively. In a high proportion of patients the disease is caused by de novo mutations at the MECP2 gene, encoding methyl-CpG-binding protein 2. With the aim to characterize the spectrum of mutations in a series of sporadic RTT patients, including an affected male, and to relate the genetic results to the clinical features...
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