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Article

Molecular genetics of Marfan syndrome.

Current opinion in cardiology - 1 May 2005

Boileau Catherine, Jondeau Guillaume, Mizuguchi Takeshi, Matsumoto Naomichi

Abstract excerpt

PURPOSE OF REVIEW: Marfan syndrome, the founding member of connective tissue disorders, is characterized by involvement of three major systems (skeletal, ocular, and cardiovascular) due to alteration in microfibrils. FBN1 at 15q21.1 was found to cause Marfan syndrome in 1991, and in 2004 TGFBR2 a...

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Source

Identifiers

PMID: 15861007
DOI: 10.1097/01.hco.0000162398.21972.cd

Genes

TGFBR2
FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15861007-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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