Genetic testing for hereditary hemorrhagic telangiectasia

Genetic testing for hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterized by telangiectases and arteriovenous malformations. These lesions cause bleeding, particularly in the nose, gastrointestinal tract and brain. HHT has incomplete penetrance, variable expressivity and...

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Bibliographic Details
Main Authors: Rakhmanov Yeltay, Maltese Paolo Enrico, Paolacci Stefano, Marinelli Carla, Mattassi Raul Ettore, Amato Bruno, Beccari Tommaso, Dundar Munis, Bertelli Matteo
Format: Article
Language:English
Published: Sciendo 2018-09-01
Series:The EuroBiotech Journal
Subjects:
hereditary hemorrhagic telangiectasia
acvrl1
eng
gdf2
smad4
ebtna utility gene test
Online Access:https://doi.org/10.2478/ebtj-2018-0031

Internet

https://doi.org/10.2478/ebtj-2018-0031

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