Article

Is <i>HSPG2</i> a modifier gene for Marfan syndrome?

2019-11-20

Abstract excerpt

<h4>ABSTRACT</h4> Marfan syndrome (MFS) is a connective tissue disease caused by mutations 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 mgΔ loxPneo mouse model for MFS and the synthenic loci in the human genome. Corroborating o...

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Literature Corpus work: afb6278c-faec-5af7-b482-f091e986d4f3
DOI: 10.1101/849133

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