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Article

Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.

Journal of medical genetics - 1 Nov 2001

Erickson R P, Dagenais S L, Caulder M S, Downs C A, Herman G, Jones M C, Kerstjens-Frederikse W S, Lidral A C, McDonald M, Nelson C C, Witte M, Glover T W

Abstract excerpt

BACKGROUND: Hereditary lymphoedema-distichiasis (LD) is an autosomal dominant disorder that classically presents as lymphoedema of the limbs, with variable age of onset, and extra aberrant growth of eyelashes from the Meibomian gland (distichiasis). Other major reported complications include cardiac defects, cleft palate, and extradural cysts. Photophobia, exotropia, ptosis, congenital ectropion, and congenital...

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Source

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Identifiers

PMID: 11694548
DOI: 10.1136/jmg.38.11.761
PMCID: PMC1734771

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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Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.PMID 11694548Read ↗

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