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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Vydáno v:Balkan Med J
Hlavní autoři: Baysal, Mehmet, Demir, Selma, Ümit, Elif G., Gürkan, Hakan, Baş, Volkan, Karaman Gülsaran, Sedanur, Demirci, Ufuk, Kırkızlar, Hakkı Onur, Demir, Ahmet Muzaffer
Médium: Artigo
Jazyk:Inglês
Vydáno: Galenos Publishing 2020
Témata:
Brief Report
On-line přístup: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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