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...

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Detalles Bibliográficos
Autores principales: Çelebi Tayfur, Aslı, Karaduman, Tuğçe, Özcan Türkmen, Merve, Şahin, Dilara, Çaltık Yılmaz, Aysun, Büyükkaragöz, Bahar, Buluş, Ayşe Derya, Mergen, Hatice
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280332/
https://www.ncbi.nlm.nih.gov/pubmed/29991464
http://dx.doi.org/10.4274/jcrpe.0097

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