A Novel Mutation in the AVPR2 Gene Causing Congenital Nephrogenic Diabetes Insipidus

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 the arginine vasopressin receptor 2 (AVPR2) gene. Our objective is to report a n...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:J Clin Res Pediatr Endocrinol
Main Authors: Çelebi Tayfur, Aslı, Karaduman, Tuğçe, Özcan Türkmen, Merve, Şahin, Dilara, Çaltık Yılmaz, Aysun, Büyükkaragöz, Bahar, Buluş, Ayşe Derya, Mergen, Hatice
פורמט: Artigo
שפה:Inglês
יצא לאור: Galenos Publishing 2018
נושאים:
Original Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC6280332/
https://ncbi.nlm.nih.gov/pubmed/29991464
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.0097
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