Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.

doi:10.1002/humu.9377

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Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.

Human mutation - 1 Nov 2005

Arbustini Eloisa, Grasso Maurizia, Ansaldi Silvia, Malattia Clara, Pilotto Andrea, Porcu Emanuele, Disabella Eliana, Marziliano Nicola, Pisani Angela, Lanzarini Luca, Mannarino Savina, Larizza Daniela, Mosconi Mario, Antoniazzi Elena, Zoia M Cristina, Meloni Giulia, Magrassi Lorenzo, Brega Agnese, Bedeschi Maria Francesca, Torrente Isabella, Mari Francesca, Tavazzi Luigi

Abstract excerpt

Marfan Syndrome (MFS) is an autosomal dominant disorder of the connective tissue due to mutations of Fibrillin-1 gene (FBN1) in more than 90% of cases and Transforming Growth Factor-Beta-Receptor2 gene (TGFB2R) in a minority of cases. Genotyping is relevant for diagnosis and genotype-phenotype correlations. We describe the FBN1 genotypes and related phenotypes of 81 patients who were referred to our attention for...

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PMID: 16222657
DOI: 10.1002/humu.9377

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FBN1

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