Article
Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.
Journal of medical genetics - 1 Feb 2007
Archer Hayley, Evans Julie, Leonard Helen, Colvin Lyn, Ravine David, Christodoulou John, Williamson Sarah, Charman Tony, Bailey Mark E S, Sampson Julian, de Klerk Nicholas, Clarke Angus
Abstract excerpt
INTRODUCTION: Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene. The most common mutations in the gene are p.R168X and p.T158M. The influence of X-chromosome inactivation (XCI) on clinical severity in patients with RTT with these mutations was investigated, taking into account the extent and direction of skewing. METHODS: Female...
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