A novel AVPR2 missense mutation in an Asian family with inherited nephrogenic diabetes insipidus: A case report

RATIONALE: X-linked nephrogenic diabetes insipidus (NDI) is a rare inherited disease, and is characterized by renal resistance to arginine vasopressin (AVP). Its diagnosis can be clinically challenging. The application of molecular genetic analysis can provide a rapid and definitive diagnosis. PATIE...

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Detalles Bibliográficos
Autores principales: Zhang, Min, Yu, Qin, Chen, Chen, Han, Jian, Cheng, Bin, Tian, Dean
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6831311/
https://www.ncbi.nlm.nih.gov/pubmed/31027113
http://dx.doi.org/10.1097/MD.0000000000015348

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6831311/
https://www.ncbi.nlm.nih.gov/pubmed/31027113
http://dx.doi.org/10.1097/MD.0000000000015348

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