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Article

Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.

Human mutation - 1 Jun 2016

Verstraeten Aline, Alaerts Maaike, Van Laer Lut, Loeys Bart

Abstract excerpt

Marfan syndrome (MFS) is a rare, autosomal-dominant, multisystem disorder, presenting with skeletal, ocular, skin, and cardiovascular symptoms. Significant clinical overlap with other systemic connective tissue diseases, including Loeys-Dietz syndrome (LDS), Shprintzen-Goldberg syndrome (SGS), and the MASS phenotype, has been documented. In MFS and LDS, the cardiovascular manifestations account for the major...

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PMID: 26919284
DOI: 10.1002/humu.22977

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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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