Ascertainment and severity of Marfan syndrome in a Scottish population.

doi:10.1136/jmg.31.1.51

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Article

Ascertainment and severity of Marfan syndrome in a Scottish population.

Journal of medical genetics - 1 Jan 1994

Gray J R, Bridges A B, Faed M J, Pringle T, Baines P, Dean J, Boxer M

Abstract excerpt

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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