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Article

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

Human genetics - 1 Jun 2001

Bell R, Brice G, Child A H, Murday V A, Mansour S, Sandy C J, Collin J R, Brady A F, Callen D F, Burnand K, Mortimer P, Jeffery S

Abstract excerpt

Lymphoedema-distichiasis (LD) is a dominantly inherited form of primary lymphoedema with onset of lower limb swelling at puberty or later. There is variable penetrance of this disorder, but the most consistently inherited feature is distichiasis, viz. fine hairs arising inappropriately from the m...

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Source

Identifiers

PMID: 11499682
DOI: 10.1007/s004390100528

Genes

FOXC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11499682-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene.PMID 11499682Read ↗

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