Article

Possible Association of a Novel c.7664A>C Variant of CELSR1 with Primary Lymphedema: Family Case Report

2024-01-16

Abstract excerpt

Lymphedema refers to a group of disorders characterized by the accumulation of protein-rich fluid in the interstitial tissues, resulting from an imbalance between lymph production and it’s drainage via lymphatic vessels. More than 10 types of isolated primary LD is described, and among them CELSR1-associated lymphedema are one of the less studied. A family with two sibs, a 17-year-old boy and an 8-year-old girl, b...

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Literature Corpus work: 5b48e235-fb9a-5542-ade2-8adb03605cba
DOI: 10.20944/preprints202401.1154.v1

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