Article
Spectrum of MECP2 mutations in New Zealand Rett syndrome patients.
The New Zealand medical journal - 5 Jun 2009
Raizis Anthony M, Saleem Mohammed, MacKay Richard, George Peter M
Abstract excerpt
BACKGROUND: Classical Rett syndrome is a severe neurodevelopmental X-linked dominant disorder affecting 1/15,000 girls worldwide. MECP2 has been identified as the predominant gene associated with Rett syndrome. Approximately 65-85% of patients with classical Rett syndrome have identifiable MECP2 mutations. In comparison, up to 57% of patients with atypical Rett have mutations in the MECP2 gene. OBJECTIVES: To...
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