Two Novel Mutations in the Aquaporin 2 Gene in a Girl with Congenital Nephrogenic Diabetes Insipidus

Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by insensitivity of the kidney to the antidiuretic effect of vasopressin. There are three inheritance patterns of CNDI: the X-linked recessive form associated with vasopressin V2 receptor gene mutations, and...

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Detalles Bibliográficos
Autores principales: Cheong, Hae Il, Cho, Su Jin, Zheng, Shou Huan, Cho, Hee Yeon, Ha, Il Soo, Choi, Yong
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2005
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2779314/
https://www.ncbi.nlm.nih.gov/pubmed/16361827
http://dx.doi.org/10.3346/jkms.2005.20.6.1076

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