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Article

A recurring FBN1 gene mutation in neonatal Marfan syndrome.

Archives of pediatrics & adolescent medicine - 1 Nov 2002

Jacobs Amanda M, Toudjarska Ivanka, Racine Andrew, Tsipouras Petros, Kilpatrick Michael W, Shanske Alan

Abstract excerpt

BACKGROUND: Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in the fibrillin 1 gene (FBN1). FBN1 mutations have been associated with a broad spectrum of phenotypes. Neonatal Marfan syndrome has unique clinical manifestations and mutations. OBJECTIVE: To determine if there is a discernible genotypic-phenotypic correlation associated with the unique mutation in neonatal...

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Source

Identifiers

PMID: 12413333
DOI: 10.1001/archpedi.156.11.1081

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A recurring FBN1 gene mutation in neonatal Marfan syndrome.PMID 12413333Read ↗

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