Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristics

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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Bibliographic Details
Main Authors: Inés Gómez-Acebo, Sara Rodríguez Prado, Ángel De La Mora, Roberto Zarrabeitia Puente, Beatriz de la Roza Varela, Trinidad Dierssen-Sotos, Javier Llorca
Format: Article
Language:English
Published: BMC 2020-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Hereditary hemorrhagic telangiectasia
HHT
Osler-weber-Rendu
ENG
ACVRL1/ALK1
Online Access:http://link.springer.com/article/10.1186/s13023-020-01433-5

Internet

http://link.springer.com/article/10.1186/s13023-020-01433-5

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