Literature DB >> 21840105

Phenotypic variability in Marfan syndrome in a family with a novel nonsense FBN1 gene mutation.

Aránzazu Díaz de Bustamante, Eva Ruiz-Casares, M Teresa Darnaude, Teresa Perucho, Gabriel Martínez-Quesada.   

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Year:  2011        PMID： 21840105     DOI： 10.1016/j.recesp.2011.05.027

Source DB:  PubMed          Journal:  Rev Esp Cardiol (Engl Ed)        ISSN： 1885-5857


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  3 in total

1.  Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome.

Authors:  Yanireth Jimenez; Cesar Paulsen; Eduardo Turner; Sebastian Iturra; Oscar Cuevas; Guillermo Lay-Son; Gabriela M Repetto; Marcelo Rojas; Juan F Calderon
Journal:  Genes (Basel)       Date:  2022-06-08       Impact factor: 4.141

2.  Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability.

Authors:  Thomas Grange; Mélodie Aubart; Maud Langeois; Louise Benarroch; Pauline Arnaud; Olivier Milleron; Ludivine Eliahou; Marie-Sylvie Gross; Nadine Hanna; Catherine Boileau; Laurent Gouya; Guillaume Jondeau
Journal:  Genes (Basel)       Date:  2020-05-20       Impact factor: 4.096

Review 3.  Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts.

Authors:  Rebecca Kingdom; Caroline F Wright
Journal:  Front Genet       Date:  2022-07-25       Impact factor: 4.772
  3 in total

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