Last year, The American Journal of Medical Genetics published the best an most comprehensive review article to date on MECP2 duplication syndrome. This is a great article for families to share with their healthcare providers. Unfortunately, most families do not have subscriptions to this journal and accessing the article is difficult. However, there is public access to the article [The MECP2 Duplication Syndrome:2010 by Melissa B. Ramocki, Y. Jane Tavyev, and Sarika U. Peters] in its prepublication form on the web thanks to the National Institutes of Health. Just click on the article name to go to the site that also includes some short video clips of boys with the syndrome. I strongly recommend printing a PDF copy and taking one along on first visits to healthcare providers who are not familiar with the syndrome. Just click on the link to go to the NIH site with public access to the article including a PDF download option.MECP2 Duplication Syndrome
Note: This blog included a previous post on this article last April, but did not include info on public access.
