Article

Integrated Genomics Analysis Identifies Recessive Ciliopathy Mutations in Primary Endocardial Fibroelastosis: a Rare Neonatal Cardiomyopathy

2021-03-26

Abstract excerpt

<title>Abstract</title> <p>Among neonatal cardiomyopathies, primary endocardial fibroelastosis (pEFE) remains a mysterious disease of the endomyocardium, affecting 1/5000 live births and accounting for 25% of the entire pediatric dilated cardiomyopathy with a devastating course and grave prognosis. To investigate the potential genetic cause that underlies pEFE, we performed integrative genomic analysis, using who...

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Literature Corpus work: e9021f55-b1e5-530d-9d6d-b07dd02606c9
DOI: 10.21203/rs.3.rs-327918/v1

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