Browsing Rektörlüğe Bağlı Birimler by Type "report"

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

Baysal, Mehmet; Demir, Selma; Ümit, Elif G.; Gürkan, Hakan; Baş, Volkan; Gülarslan, Sedanur Karaman; Demir, Ahmet Muzaffer (2020)

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. ...