Journal 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

Hayley Archer, Julie Evans, Helen Leonard, Lyn Colvin, David Ravine, John Christodoulou, Sarah Williamson, Tony Charman, Mark ES Bailey, Julian Sampson, Nicholas de Klerk, Angus Clarke

Journal of Medical Genetics | BMJ PUBLISHING GROUP | Published : 2007