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Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations

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...

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Main Authors: Erickson, R., Dagenais, S., Caulder, M., Downs, C., Herman, G., Jones, M., Kerstjens-Frederi..., W., Lidral, A., McDonald, M., Nelson, C., Witte, M., Glover, T.
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Group 2001
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734771/
https://ncbi.nlm.nih.gov/pubmed/11694548
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.11.761
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