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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Detalles Bibliográficos
Autores principales: Baysal, Mehmet, Demir, Selma, Ümit, Elif G., Gürkan, Hakan, Baş, Volkan, Karaman Gülsaran, Sedanur, Demirci, Ufuk, Kırkızlar, Hakkı Onur, Demir, Ahmet Muzaffer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2020
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6934015/
https://www.ncbi.nlm.nih.gov/pubmed/31594285
http://dx.doi.org/10.4274/balkanmedj.galenos.2019.2019.7.2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6934015/
https://www.ncbi.nlm.nih.gov/pubmed/31594285
http://dx.doi.org/10.4274/balkanmedj.galenos.2019.2019.7.2

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