Literature DB >> 26903455

Genetic testing in Marfan syndrome.

Anne H Child1, Jose A Aragon-Martin2, Karen Sage3.   

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.

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Year:  2016        PMID: 26903455     DOI: 10.12968/hmed.2016.77.1.38

Source DB:  PubMed          Journal:  Br J Hosp Med (Lond)        ISSN: 1750-8460            Impact factor:   0.825


  2 in total

1.  Genetic diagnostics of inherited aortic diseases : Medical strategy analysis.

Authors:  Y von Kodolitsch; K Kutsche
Journal:  Herz       Date:  2017-08       Impact factor: 1.443

2.  Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome.

Authors:  Fatemeh Bitarafan; Ehsan Razmara; Mehrnoosh Khodaeian; Mohammad Keramatipour; Alireza Kalhor; Ehsan Jafarinia; Masoud Garshasbi
Journal:  Mol Genet Genomic Med       Date:  2020-05-19       Impact factor: 2.183

  2 in total

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