Clinical, Genetic and Functional Characterization of a Novel AVPR2 Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus

Nephrogenic diabetes insipidus (NDI) is a rare disorder characterized by renal unresponsiveness to the hormone vasopressin, leading to excretion of large volumes of diluted urine. Mutations in the arginine vasopressin receptor-2 (AVPR2) gene cause congenital NDI and have an X-linked recessive inheri...

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Detalles Bibliográficos
Autores principales: Selvaraj, Senthil, Rodrigues, Dírcea, Krishnamoorthy, Navaneethakrishnan, Fakhro, Khalid A., Saraiva, Luís R., Lemos, Manuel C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8779739/
https://www.ncbi.nlm.nih.gov/pubmed/35055433
http://dx.doi.org/10.3390/jpm12010118

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8779739/
https://www.ncbi.nlm.nih.gov/pubmed/35055433
http://dx.doi.org/10.3390/jpm12010118

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