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Article

Novel missense mutations in the FOXC2 gene alter transcriptional activity.

Human mutation - 1 Dec 2009

van Steensel M A M, Damstra R J, Heitink M V, Bladergroen R S, Veraart J, Steijlen Peter M, van Geel M

Abstract excerpt

Mutations in the FOXC2 gene that codes for a forkhead transcription factor are associated with primary lymphedema that usually develops around puberty. Associated abnormalities include distichiasis and, very frequently, superficial and deep venous insufficiency. Most mutations reported so far eit...

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Source

Identifiers

PMID: 19760751
DOI: 10.1002/humu.21127

Genes

FOXC2
FOXC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19760751-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Novel missense mutations in the FOXC2 gene alter transcriptional activity.PMID 19760751Read ↗

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