Ascertainment and severity of Marfan syndrome in a Scottish population.
نویسندگان
چکیده
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.
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 31 1 شماره
صفحات -
تاریخ انتشار 1994