Journal article

Describing the phenotype in Rett syndrome using a population database

L Colvin, S Fyfe, S Leonard, T Schiavello, C Ellaway, N de Klerk, J Christodoulou, M Msall, H Leonard

Archives of Disease in Childhood | BRITISH MED JOURNAL PUBL GROUP | Published : 2003


BACKGROUND: Mutations in the MECP2 gene have been recently identified as the cause of Rett syndrome, prompting research into genotype-phenotype relations. However, despite these genetic advances there has been little descriptive epidemiology of the full range of phenotypes. AIMS: To describe the variation in phenotype in Rett syndrome using four different scales, by means of a population database. METHODS: Using multiple sources of ascertainment including the Australian Paediatric Surveillance Unit, the development of an Australian cohort of Rett syndrome cases born since 1976 has provided the first genetically characterised population based study of Rett syndrome. Follow up questionnaires w..

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