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Genetic testing in Marfan syndrome

Child, AH; Aragon-Martin, JA; Sage, K (2016) Genetic testing in Marfan syndrome. British Journal of Hospital Medicine, 77 (1). pp. 38-41. ISSN 1750-8460 https://doi.org/10.12968/hmed.2016.77.1.38
SGUL Authors: Child, Anne Hawthorne

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Abstract

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.

Item Type: Article
Additional Information: This document is the Accepted Manuscript version of a Published Work that appeared in final form in British Journal of Hospital Medicine, copyright © MA Healthcare, after peer review and technical editing by the publisher. To access the final edited and published work see https://doi.org/10.12968/hmed.2016.77.1.38.
Keywords: General & Internal Medicine, 1103 Clinical Sciences
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) > Cardiac (INCCCA)
Journal or Publication Title: British Journal of Hospital Medicine
ISSN: 1750-8460
Dates:
DateEvent
January 2016Published
14 January 2016Published Online
Publisher License: Publisher's own licence
URI: https://openaccess.sgul.ac.uk/id/eprint/107715
Publisher's version: https://doi.org/10.12968/hmed.2016.77.1.38

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