Article

Long-Term Follow-up of a Homozygous Familial Hypercholesterolemia Child with Progressive Aortic Stenosis and Coronary Atherosclerosis

2020-06-18

Abstract excerpt

<title>Abstract</title> <p>Familial hypercholesterolemia (FH) is a severe autosomal-dominant disorder. We reported a case who firstly admitted to our institution for obvious cutaneous and tendinous xanthomas and high low-density lipoprotein cholesterol when he was 3.7 year old in 2005. DNA sequencing detected the homozygous mutation in LDLR exon9 c.1187-10G>A, a 3' splice acceptor mutation in poly-pyrimidine trac...

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Literature Corpus work: cedd1c23-b325-5a7b-9b6e-9f336c8d6743
DOI: 10.21203/rs.3.rs-35528/v1

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