Genetic testing in Marfan syndrome. | LitMetric

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Genetic testing in Marfan syndrome. | LitMetric

Genetic testing in Marfan syndrome.

Anne H Child Jose A Aragon-Martin Karen Sage

Br J Hosp Med (Lond)

Medical Genetic Counsellor and PGD Specialist, The Bridge Centre, London Fertility Clinic, London.

Published: January 2016

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.

Download full-text PDF	Source
http://dx.doi.org/10.12968/hmed.2016.77.1.38	DOI Listing

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