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Phenotypic manifestations ofMECP2 mutations in classical and atypical rett syndrome

✍ Scribed by Schanen, Carolyn ;Houwink, Elisa J.F. ;Dorrani, Naghmeh ;Lane, Jane ;Everett, Ruth ;Feng, Alice ;Cantor, Rita M. ;Percy, Alan


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
249 KB
Volume
126A
Category
Article
ISSN
0148-7299

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## Abstract Rett syndrome is a neurodevelopmental disorder that represents one of the most common genetic causes of mental retardation in girls. __MECP2__ point mutations in exons 2–4 account for about 80% of classic Rett cases and for a lower percentage of variant patients. We investigated the gen