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Article

Recent developments in the diagnosis of Marfan syndrome and related disorders.

The Medical journal of Australia - 5 Nov 2012

Summers Kim M, West Jennifer A, Hattam Annette, Stark Denis, McGill James J, West Malcolm J

Abstract excerpt

Marfan syndrome is a multisystem disorder of connective tissue that is inherited in an autosomal dominant fashion, and results from mutation of the FBN1 gene on human chromosome 15. There are a number of conditions of the connective tissue with a similar phenotype that can be confused with Marfan syndrome. Modifications of the diagnostic criteria have recently been published, facilitating the differentiation of...

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PMID: 23121584
DOI: 10.5694/mja12.10560

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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