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Article

Fibrillin–2 (FBN2) mutations result in the Marfan–like disorder, congenital contractural arachnodactyly

1 Dec 1995

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 7493032
DOI: 10.1038/ng1295-456

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Fibrillin–2 (FBN2) mutations result in the Marfan–like disorder, congenital contractural arachnodactylyPMID 7493032Read ↗

The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.Semantic proximity Read ↗

FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.Semantic proximity Read ↗

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.Semantic proximity Read ↗

Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development.Semantic proximity Read ↗

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders.Semantic proximity Read ↗

Mutation of the gene encoding fibrillin-2 results in syndactyly in mice.Semantic proximity Read ↗

FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations.Semantic proximity Read ↗

Ascending aortic aneurysm with or without features of Marfan syndrome and other fibrillinopathies: new insights.Semantic proximity Read ↗

Orofacial manifestations of congenital fibrillin deficiency: pathogenesis and clinical diagnostics.Semantic proximity Read ↗

Fibrillin‐rich microfibrils: Structural determinants of morphogenetic and homeostatic eventsSemantic proximity Read ↗

Genetic models of fibrillinopathies.Semantic proximity Read ↗

Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.Semantic proximity Read ↗

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