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Article

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

Revista espanola de cardiologia (English ed.) - 1 Apr 2012

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

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Identifiers

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

Genes

FBN1

Provenance

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Related research

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Phenotypic variability in Marfan syndrome in a family with a novel nonsense FBN1 gene mutation.PMID 21840105Read ↗

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Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg.Semantic proximity Read ↗

Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype.Semantic proximity Read ↗

Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevanceSemantic proximity Read ↗

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.Semantic proximity Read ↗

Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guideline.Semantic proximity Read ↗

Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome.Semantic proximity Read ↗

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