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Diagnosis: Rett Syndrome
March 5, 2014 in Uncategorized | Tags: Baylor College of Medicine, CDKL5, FOXG1, Jeff Neul, MECP2, Monica Coenraads, rett syndrome, Rett Syndrome Research Trust, RSRT | Leave a comment
If you’ve ever wondered why a Rett diagnosis is based on clinical features and not a positive MECP2 test or if you have a child with a Rett diagnosis but no MECP2 mutation or the other way around then this is a video for you. What exactly does atypical Rett mean and should individuals with CDKL5 and FOXG1 mutations be considered Rett? All these topics are covered in the video below.