• A Novel Mutation in the Avpr2 Gene Causing Congenital Nephrogenic Diabetes Insipidus 

      Çelebi Tayfur, Aslı; Karaduman, Tuğçe; Özcan Türkmen, Merve; Şahin, Dilara; Çaltık Yılmaz, Aysun; Büyükkaragöz, Bahar; Buluş, Ayşe Derya; Mergen, Hatice (2018)
      Objective: Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by a renal insensitivity to arginine vasopressin (AVP). In the majority of the cases, CNDI is caused by mutations in ...