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Research Article
Ascertainment and severity of Marfan syndrome in a Scottish population.
  1. J R Gray,
  2. A B Bridges,
  3. M J Faed,
  4. T Pringle,
  5. P Baines,
  6. J Dean,
  7. M Boxer
  1. Department of Pathology, Ninewells Hospital and Medical School, Dundee, UK.

    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.

    https://doi.org/10.1136/jmg.31.1.51

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