Genetic Diagnosis of Hereditary Hemorrhagic Telangiectasia: Four Novel Pathogenic Variations in Turkish Patients
Mehmet BaysalSelma DemirElif G. ÜmitHakan GürkanVolkan BaşSedanur Karaman GülsaranUfuk DemirciHakkı Onur KırkızlarAhmet Muzaffer DemirPublished in: Balkan medical journal (2019)
In HHT certain type of mutations correlates with disease phenotypes and with next generation sequencing method, new pathogenic variations can be revealed which might help managing HHT patients.