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Article

Is HSPG2 a modifier gene for Marfan syndrome?

European journal of human genetics : EJHG - 1 Sept 2020

Gerdes Gyuricza Isabela, Barbosa de Souza Rodrigo, Farinha-Arcieri Luis Ernesto, Ribeiro Fernandes Gustavo, Veiga Pereira Lygia

Abstract excerpt

Marfan syndrome (MFS) is a connective tissue disease caused by variants in the FBN1 gene. Nevertheless, other genes influence the manifestations of the disease, characterized by high clinical variability even within families. We mapped modifier loci for cardiovascular and skeletal manifestations in the mg∆loxPneo mouse model for MFS and the synthenic loci in the human genome. Corroborating our findings, one of...

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Identifiers

PMID: 32514132
DOI: 10.1038/s41431-020-0666-0
PMCID: PMC7608216

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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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