Article
Genetic testing in Marfan syndrome.
British journal of hospital medicine (London, England : 2005) - 1 Jan 2016
Child Anne H, Aragon-Martin Jose A, Sage Karen
Abstract excerpt
Genetic testing is aiding rapid diagnosis of Marfan syndrome as a basis for management of eye, heart and skeletal disease. The affected patient's mutation can be used as a basis for prenatal or postnatal diagnosis of offspring. Preimplantation genetic diagnosis, the technique of choice, can ensure an unaffected pregnancy.
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