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Article

Lymphedema-distichiasis syndrome and FOXC2 gene mutation.

American journal of ophthalmology - 1 Oct 2002

Traboulsi Elias I, Al-Khayer Khouloud, Matsumoto Masayuki, Kimak Mark A, Crowe Susan, Wilson Steven E, Finegold David N, Ferrell Robert E, Meisler David M

Abstract excerpt

PURPOSE: To describe the clinical characteristics of a family with autosomal dominant lymphedema-distichiasis syndrome and to report the results of analysis of the FOXC2 gene DESIGN: Observational and experimental study. METHODS: The setting was a clinical practice. The study population was 17 members of a family with lymphedema-distichiasis. Observation procedures were complete ophthalmologic examinations and...

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Source

Identifiers

PMID: 12383817
DOI: 10.1016/s0002-9394(02)01642-2

Genes

FOXC2

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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.

Related research

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Lymphedema-distichiasis syndrome and FOXC2 gene mutation.PMID 12383817Read ↗

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Truncating mutations in FOXC2 cause multiple lymphedema syndromes.Semantic proximity Read ↗

Ophtalmologic diagnosis of lymphedema-distichiasis syndrome through the FOXC2 mutation.Semantic proximity Read ↗

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

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Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene.Semantic proximity Read ↗

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Literature watch. FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome.Semantic proximity Read ↗

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