[Genetic diagnostics of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease)].

Conclusions: The significance of genetic testing is confirming or excluding HHT in young asymptomatic individuals in families with pathogenic mutations. As ENG and ACVRL1 mutations result in overlapping fenotypes, the genetic testing lacks any prognostic value. The identification of founder effects might simplify the genetic diagnosis of new HHT patients from a given region. Orv Hetil. 2019; 160(18): 710-719.
PMID: 31030535 [PubMed - in process]

Source: Orvosi Hetilap - April 30, 2019 Category: General Medicine Authors: Major T, Gindele R, Szabó Z, Jóni N, Kis Z, Bora L, Bárdossy P, Rácz T, Karosi T, Bereczky Z Tags: Orv Hetil Source Type: research