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  1. Ascertainment and severity of Marfan syndrome in a Scottish population.

    Article - En anglais

    This study in north east Scotland has shown that Marfan syndrome has a minimal birth incidence of 1:9802 live births, a minimal prevalence of 1:14217, and that 8/30 (26.7%) of cases in our series are new mutations.

    The calculated mutation rate is 15+-6.7x10-6 and there is evidence of reduced reproductive fitness.

    Mots-clés Pascal : Marfan syndrome, Homme, Ecosse, Grande Bretagne, Royaume Uni, Europe, Epidémiologie, Mutation, Phénotype, Tissu élastique pathologie, Tissu conjonctif pathologie, Maladie héréditaire, Maladie système

    Mots-clés Pascal anglais : Marfan syndrome, Human, Scotland, Great Britain, United Kingdom, Europe, Epidemiology, Mutation, Phenotype, Elastic tissue disease, Connective tissue disease, Genetic disease, Systemic disease

    Logo du centre Notice produite par :
    Inist-CNRS - Institut de l'Information Scientifique et Technique

    Cote : 94-0170425

    Code Inist : 002B07. Création : 199406.