Targeting under-diagnosis in hereditary hemorrhagic telangiectasia: a model approach for rare diseases?

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT), a rare autosomal dominant disease, is considered under-diagnosed. Our primary objective was to provide evidence of under-diagnosis of HHT in a North American population. We hypothesized that variation would exist in the diagnosed prevalence (D...

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Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: Latino, Giuseppe A, Brown, Dale, Glazier, Richard H, Weyman, Jonathan T, Faughnan, Marie E
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2014
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4222286/
https://ncbi.nlm.nih.gov/pubmed/25060326
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0115-7
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