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At the RSRF sponsored 5th Annual Rett Syndrome Symposium this past June, Dr. John Christodoulou of the Children’s Hospital of Westmead in Sydney, Australia, presented data from his research on Rett patients who to date have tested negative for MECP2 mutations. He shared that mutations in a gene called STK9 lead to symptoms that strongly resemble Rett Syndrome. Dr. Christodoulou is interested in analyzing samples of patients who have Rett symptoms but no MECP2 mutations. If you are interested in sending a sample please visit our website for more information. Scroll down the webpage to download consent forms and instructions.
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The 9/27 RSRFNewsAlert included information on a paper written by Dr. Sara Jane White regarding nutrition for individuals with Rett Syndrome. The website (www.natdoc.com) is experiencing some problems. If you cannot access the website please contact Dr. White directly at sara_jane_white@yahoo.com and she will email you the paper.
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