Article

Compound heterozygous PROC mutations cause lipedema in humans

2025-02-07

Abstract excerpt

<title>Abstract</title> <p>Lipedema is a hereditary disorder characterized by excessive accumulation of subcutaneous adipose tissue in the limbs. The genetic causes and mechanisms underlying abnormal adipocyte expansion in lipedema, however, remain unknown. Here, we identify compound heterozygous mutations in the <italic>PROC</italic> gene in three lipedema patients from two unrelated consanguineous families. <it...

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Literature Corpus work: b2c2389c-9182-5cf6-8849-347fe35d721a
DOI: 10.21203/rs.3.rs-5876962/v1

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