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 | ||||||
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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) |
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Journal or Publication Title: | British Journal of Hospital Medicine | ||||||
ISSN: | 1750-8460 | ||||||
Dates: |
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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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