Why the study?
What is the incidence, prevalence, and mutation rate of Marfan syndrome in north east Scotland?
Population
Cases of Marfan syndrome in north east Scotland (n=30 in the series)
Design
Cross-sectional
Authors
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Offers population-based Marfan estimates for northeast Scotland; leaves open broader generalizability and mutation rate determinants.
What is the incidence, prevalence, and mutation rate of Marfan syndrome in north east Scotland?
The study provides epidemiological data on Marfan syndrome in Scotland, showing a minimal birth incidence of 1:9802 and a 26.7% rate of new mutations.
Gray et al. (1994) studied this question.
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