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Article

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24.

Journal of medical genetics - 1 Jul 2002

Brice G, Mansour S, Bell R, Collin J R O, Child A H, Brady A F, Sarfarazi M, Burnand K G, Jeffery S, Mortimer P, Murday V A

Abstract excerpt

INTRODUCTION: Lymphoedema-distichiasis syndrome (LD) (OMIM 153400) is a rare, primary lymphoedema of pubertal onset, associated with distichiasis. Causative mutations have now been described in FOXC2, a forkhead transcription factor gene. Numerous clinical associations have been reported with this condition, including congenital heart disease, ptosis, varicose veins, cleft palate, and spinal extradural cysts....

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Topics

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 16

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Forkhead Transcription Factors

Share to Genetic Linkage

Share to Lymphedema

Share to Puberty

Share to Radionuclide Imaging

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Source

Open in PubMed Open full text

Identifiers

PMID: 12114478
DOI: 10.1136/jmg.39.7.478
PMCID: PMC1735188

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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Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24.PMID 12114478Read ↗

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