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Article

Identification of a Novel FLT4 c.3028A>C Variant Associated With Milroy Disease.

Clinical genetics - 1 May 2025

Feiskhanov Aygiz, Ibragimova Aigul, Gaysina Elina, Boulygina Eugenia, Rizvanov Albert, Miftakhova Regina, Filina Yulia

Abstract excerpt

VEGFR3 (FLT4) is crucial for embryonic lymphangiogenesis, and defects in this receptor can lead to congenital lymphedema type 1A (Milroy disease). This study analyses FLT4 gene sequence in 24 primary lymphedema patients, identifying genetic variants in five patients resembling typical Milroy disease. A novel likely pathogenic variant (c.3028A>C) was identified, and the pathogenicity of two previously described...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39691059
DOI: 10.1111/cge.14671

Genes

FLT4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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