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

Abstract excerpt

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 9.5 million births, 1500 infants with skeletal dysplasias were identified (16 per 100,000). In spite of efforts to get exact diagnoses, an average of 21% were unspecified. Comparisons of rates of specific diagnoses in...

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