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Article

Heterozygous deletion of the VEGFC gene in 4q34.3 is associated with Milroy-like lymphedema: First prenatal case report.

American journal of medical genetics. Part A - 1 Dec 2022

Huynh Minh-Tuan, Degre Sophie, Joly-Helas Géraldine, Bréon Cathy, Potel Stéphanie, Chambon Pascal, Bouligand Jérôme, Layet Valérie

Abstract excerpt

Deleterious variants in the vascular endothelial growth factor C (VEGFC) gene have been recently associated with Milroy-like primary lymphedema, an autosomal dominant disorder, characterized mainly by swelling of the lower limbs due to functional impairment of the lymphatic vessels. To date, only 26 patients with congenital lymphedema harboring VEGFC pathogenic variants were documented. Here, we describe the...

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PMID: 36129367
DOI: 10.1002/ajmg.a.62973

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