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- Title
Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.
- Authors
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
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 cataracts are additional eye findings. Recently, we reported that truncating mutations in the forkhead transcription family member FOXC2 resulted in LD in two families.
- Publication
Journal of medical genetics, 2001, Vol 38, Issue 11, p761
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmg.38.11.761