Ascertainment and severity of Marfan syndrome in a Scottish population.
Open Access
- 1 January 1994
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 31 (1) , 51-54
- https://doi.org/10.1136/jmg.31.1.51
Abstract
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 +/- 6.7 x 10(-6) and there is evidence of reduced reproductive fitness.Keywords
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