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Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristics

Abstract Background The aim of our study is to study the association between eye lesions in Hereditary Hemorrhagic Telangiectasia (HHT) and other signs of the disease, as well as to characterize its genetics. Methods A cross-sectional study was conducted of a cohort of 206 patients studied in the HH...

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Autori principali: Inés Gómez-Acebo, Sara Rodríguez Prado, Ángel De La Mora, Roberto Zarrabeitia Puente, Beatriz de la Roza Varela, Trinidad Dierssen-Sotos, Javier Llorca
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMC 2020-06-01
Serie:Orphanet Journal of Rare Diseases
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Accesso online:http://link.springer.com/article/10.1186/s13023-020-01433-5
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