Article
Genotype-phenotype relationship among Egyptian children with Rett syndrome.
The Journal of the Egyptian Public Health Association - 1 Sept 2015
Mansour Lobna, El Sobky Ezzat, Mohamed Solaf M, Marzouk Huda, Tarek Lamia A
Abstract excerpt
BACKGROUND: Rett syndrome (RTT) is an X-linked dominant neurodegenerative disorder with various MECP2 mutations. RTT is one of the most common causes of severe intellectual and complex disability in girls. Therefore, the aims of the study were as follows: to highlight the clinical manifestations of RTT; to present the genotype-phenotype relationship; and to assess the possible relation between severity score,...
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