Ascertainment and severity of Marfan syndrome in a Scottish population.

Autor: Gray, J R, Bridges, A B, Faed, M J, Pringle, T, Baines, P, Dean, J, Boxer, M
Zdroj: Journal of Medical Genetics; Jan1994, Vol. 31 Issue 1, p51-54, 4p
Abstrakt: 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. [ABSTRACT FROM PUBLISHER]
Databáze: Complementary Index