Article
Describing the phenotype in Rett syndrome using a population database.
Archives of disease in childhood - 1 Jan 2003
Colvin L, Fyfe S, Leonard S, Schiavello T, Ellaway C, De Klerk N, Christodoulou J, Msall M, Leonard H
Abstract excerpt
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...
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