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Article

Genetic models of fibrillinopathies.

Genetics - 3 Jan 2024

Summers Kim M

Abstract excerpt

The fibrillinopathies represent a group of diseases in which the 10-12 nm extracellular microfibrils are disrupted by genetic variants in one of the genes encoding fibrillin molecules, large glycoproteins of the extracellular matrix. The best-known fibrillinopathy is Marfan syndrome, an autosomal dominant condition affecting the cardiovascular, ocular, skeletal, and other systems, with a prevalence of around 1 in...

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PMID: 37972149
DOI: 10.1093/genetics/iyad189
PMCID: PMC11021029

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Source receipt: pubmed, retrieved 7 Sept 2026.

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