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Article

Truncating mutations in FOXC2 cause multiple lymphedema syndromes.

Human molecular genetics - 15 May 2001

Finegold D N, Kimak M A, Lawrence E C, Levinson K L, Cherniske E M, Pober B R, Dunlap J W, Ferrell R E

Abstract excerpt

Hereditary lymphedemas are developmental disorders of the lymphatics resulting in edema of the extremities due to altered lymphatic flow. One such disorder, the lymphedema-distichiasis syndrome, has been reported to be caused by mutations in the forkhead transcription factor, FOXC2. We sequenced the FOXC2 gene in 86 lymphedema families to identify mutations. Eleven families were identified with mutations...

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Source

Identifiers

PMID: 11371511
DOI: 10.1093/hmg/10.11.1185

Genes

FOXC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Truncating mutations in FOXC2 cause multiple lymphedema syndromes.PMID 11371511Read ↗

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FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate.Semantic proximity Read ↗

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FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function.Semantic proximity Read ↗

Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome.Semantic proximity Read ↗

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