Article

Integrated DNA methylation analysis reveals a potential role for PTPRN2 in Marfan syndrome scoliosis

2023-05-17

Abstract excerpt

<h4>Background: </h4> Marfan syndrome (MFS) is a rare genetic disorder caused by mutations in the Fibrillin-1 gene (FBN1) with significant clinical features in the skeletal, cardiopulmonary, and ocular systems. To gain deeper insights into the contribution of epigenetics in the variability of phenotypes observed in MFS, we undertook the first analysis of integrating DNA methylation and gene expression profiles in...

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Literature Corpus work: 08a0c933-86c0-5a6f-9fad-027f63e63538
DOI: 10.21203/rs.3.rs-2896093/v1

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