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

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...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Letter to JMG
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2598067/
https://ncbi.nlm.nih.gov/pubmed/16905679
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.045260
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