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  1. Monitoring dominant germ cell mutations using skeletal dysplasias registered in malformation registries : an international feasibility study.

    Article - En anglais

    Using data from seven malformation monitoring systems around the world, the feasibility of monitoring fresh dominant mutations using skeletal dysplasias was explored.

    Based on a total of over 9.5million births, 1500 infants with skeletal dysplasias were identified (16 per 100000).

    In spite of efforts to get exact diagnoses, an average of 21% were unspecified.

    Comparisons of rates of specific diagnoses in different programmes suggested that classification differed.

    Mots-clés Pascal : Malformation, Dysplasie, Cellule germinale, Etude multicentrique, Nouveau né, Homme, Surveillance, Squelette, Système ostéoarticulaire pathologie, Mutation, Phénotype, Marqueur génétique, Tératogène, Epidémiologie, Diagnostic

    Mots-clés Pascal anglais : Malformation, Dysplasia, Germinal cell, Multicenter study, Newborn, Human, Surveillance, Skeleton, Diseases of the osteoarticular system, Mutation, Phenotype, Genetic marker, Teratogen, Epidemiology, Diagnosis

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

    Cote : 93-0280393

    Code Inist : 002B23A. Création : 199406.