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Article

Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.

Clinical genetics - 1 Oct 2013

Hogue J, Lee C, Jelin A, Strecker M N, Cox V A, Slavotinek A M

Abstract excerpt

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23278365
DOI: 10.1111/cge.12073

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.PMID 23278365Read ↗

Marfan syndrome with a homozygous FBN1 splicing mutation.Semantic proximity Read ↗

Gene symbol: FBN1. Disease: Marfan syndrome.Semantic proximity Read ↗

Marfan Syndrome Caused by Somatic Mosaicism in an FBN1 Splicing Mutation.Semantic proximity Read ↗

Detection and a functional characterization of the novel FBN1 intronic mutation underlying Marfan syndrome: case presentation.Semantic proximity Read ↗

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

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

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

[Identification of a novel FBN1 variant in a pedigree affected with Marfan syndrome].Semantic proximity Read ↗

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1].Semantic proximity Read ↗

AnFBN1Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?Semantic proximity Read ↗

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

A novel G to A substitution at nucleotide 1734 of the FBN1 gene predicting a C534Y mutation responsible for marfan syndrome.Semantic proximity Read ↗

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