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Article

Co-existence of Marfan syndrome and systemic sclerosis: A case report and a hypothesis suggesting a common link.

International journal of rheumatic diseases - 1 Nov 2020

Yap Wee Fang, Chong Hwee Cheng

Abstract excerpt

FBN1 gene encodes for the connective tissue protein fibrillin-1 which can also regulate the profibrotic cytokine transforming growth factor (TGF)-ß1. Mutations in the FBN1 gene cause Marfan syndrome (MFS), a genetic condition with defective connective tissues. FBN1 haplotypes and single nucleotide polymorphisms have also been reported to be associated with systemic sclerosis (SSc), a connective tissue disease...

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Identifiers

PMID: 32969582
DOI: 10.1111/1756-185X.13965

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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