Genetic Diagnosis of Hereditary Hemorrhagic Telangiectasia: Four Novel Pathogenic Variations in Turkish Patients

AIMS: Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder characterized by telangiectasia, epistaxis, and vascular malformations. Pathogenic mutations were found in ENG, AVCRL1, SMAD4, and GDF genes. In this study, we present our database of patients with hereditary hemorrhagic t...

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Detalhes bibliográficos
Publicado no:Balkan Med J
Main Authors: Baysal, Mehmet, Demir, Selma, Ümit, Elif G., Gürkan, Hakan, Baş, Volkan, Karaman Gülsaran, Sedanur, Demirci, Ufuk, Kırkızlar, Hakkı Onur, Demir, Ahmet Muzaffer
Formato: Artigo
Idioma:Inglês
Publicado em: Galenos Publishing 2020
Assuntos:
Brief Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6934015/
https://ncbi.nlm.nih.gov/pubmed/31594285
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/balkanmedj.galenos.2019.2019.7.2
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