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Article

Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.

American journal of medical genetics - 29 Mar 1996

Putnam E A, Cho M, Zinn A B, Towbin J A, Byers P H, Milewicz D M

Abstract excerpt

Marfan syndrome is a dominantly inherited connective tissue disorder with a wide range of phenotypic severity. The condition is the result of mutations in FBN1, a large gene composed of 65 exons encoding the fibrillin-1 protein. While mutations causing classic manifestations of Marfan syndrome have been identified throughout the FBN1 gene, the six previously characterized mutations resulting in the severe,...

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Identifiers

PMID: 8882780
DOI: 10.1002/(SICI)1096-8628(19960329)62:3<233::AID-AJMG7>3.0.CO;2-U

Genes

FBN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.PMID 8882780Read ↗

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