Literature DB >> 8217560

Marfan syndrome: genetic basis and clinical manifestations.

P Tsipouras1, R B Devereux.   

Abstract

Marfan syndrome is a systemic heritable disorder of connective tissue. The manifestations of the disorder are primarily from the musculoskeletal, cardiovascular, and ocular systems. Marfan syndrome is caused by mutations in the fibrillin gene located on chromosome 15.

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Year:  1993        PMID: 8217560

Source DB:  PubMed          Journal:  Semin Dermatol        ISSN: 0278-145X


  1 in total

Review 1.  The phenotype/genotype relation and the current status of genetic screening in hypertrophic cardiomyopathy, Marfan syndrome, and the long QT syndrome.

Authors:  J Burn; J Camm; M J Davies; L Peltonen; P J Schwartz; H Watkins
Journal:  Heart       Date:  1997-08       Impact factor: 5.994

  1 in total

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