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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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2001
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Original Articles
On-line přístup: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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