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pubmed:abstractText |
Rett syndrome, a common cause of mental retardation in females, is caused by mutations in the MECP2 gene. Most females with MECP2 mutations fulfil the established clinical criteria for Rett syndrome, but single cases of asymptomatic carriers have been described. It is therefore likely that there are individuals falling between these two extreme phenotypes.
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pubmed:affiliation |
Department of Paediatrics and Paediatric Neurology, Georg August University, Faculty of Medicine, Robert-Koch-Strasse 40, D-37075 Göttingen, Germany. phuppke@med.uni-goettingen.de
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